Goljan HY Systemic Pathology


Question Answer
Erythropoietin synthesized in peritubular capillaries
Reticulocyte count measure of effective erythropoiesis; correct for degree of anemia
Extramedullary hematopoiesis hematopoiesis outside bone marrow (e.g., spleen)
Newborn physiologic anemia drop in Hb due to replacement of HbF RBCs with HbA
Pregnancy Hb and Hct decreased; greater increase in plasma volume than RBC mass
Anemia normal O2 saturation and arterial PO2
MCV average volume of RBCs; useful for anemia classification
MCHC average Hb concentration in RBCs
MCHC ↓ in microcytic anemias; ↑ in spherocytosis
Thalassemias ↓ MCV, ↑ RBC count
RDW RBC size variation; ↑ iron deficiency; normal in other microcytic anemias
Mature RBC anaerobic glycolysis; no mitochondria or HLA antigens
Total iron binding capacity ↑ iron deficiency; ↓ anemia chronic disease, sideroblastic anemia
% Saturation ↓ iron deficiency, anemia chronic disease; ↑ sideroblastic anemia
Serum ferritin ↓ iron deficiency; ↑ anemia chronic disease, sideroblastic anemia; normal thalassemia
Microcytic anemias iron deficiency MC, anemic chronic disease, thalassemia, sideroblastic anemia
Iron deficiency child MCC Meckel’s diverticulum
Iron deficiency woman < 50 MCC menorrhagia
Iron deficiency man < 50 MCC peptic ulcer disease
Iron deficiency men/woman > 50 MCC colon cancer
Stages iron deficiency ↓ ferritin; ↓ Fe and % saturation, ↑ TIBC; normocytic then microcytic anemia
Anemia chronic disease MC anemia in malignancy and alcoholics
α-Thalassemia trait AR; two α-globin gene deletions; normal Hb electrophoresis
HbH disease three α-globin gene deletions; hemolytic anemia; four β-globin chains
Hb Bart’s disease four α-globin gene deletions; four γ-globin chains
β-Thalassemia minor AR; DNA splicing defect; ↑ HbA2 and F; ↓ HbA
β-Thalassemia major nonsense mutation with stop codon; hemolytic anemia; ↑↑ HbF, ↑ HbA2
Sideroblastic anemia defect in mitochondrial heme synthesis producing ringed sideroblasts
Causes sideroblastic anemia alcohol, pyridoxine deficiency (isoniazid Rx of TB), Pb poisoning
Pb poisoning inhibition ferrochelatase, d-aminolevulinic acid dehydrase, ribonuclease
S/S Pb poisoning children growth retardation; Pb in epiphyses (lead lines); abdominal colic; encephalopathy
S/S Pb poisoning adult peripheral neuropathy; proximal renal tubule damage (Fanconi’s syndrome)
Lab Pb poisoning coarse basophilic stippling RBCs; ↓ MCV; ↑ blood Pb; ↑ d-aminolevulinic acid
Vitamin B12 animal products; requires intrinsic factor for reabsorption in terminal ileum
Vitamin B12 transfers methyl group to homocysteine
R factor binds with B12 in mouth, removed by pancreatic enzymes in small intestine
Vitamin B12 involved in propionate metabolism; end-product succinyl CoA
Causes B12 deficiency vegan, pernicious anemia MC, fish tapeworm, pancreatitis, bacterial overgrowth, Crohn’s disease
Pernicious anemia autoimmune destruction parietal cells; chronic gastritis body/fundus; achlorhydria; ↑ gastrin
Causes folate deficiency alcohol MCC, poor diet, drugs, malabsorption, pregnancy, goat milk
Drugs and folate deficiency alcohol, OC, phenytoin, methotrexate, trimethoprim, 5-fluorouracil
Intestinal conjugase in folate metabolism inhibited by phenytoin
Jejunal uptake of monoglutamate form of folate inhibited by alcohol and OC
Dihydrofolate reductase inhibited by methotrexate, trimethoprim
Thymidylate synthetase inhibited by 5-fluorouracil
Folate deficiency MCC of increased serum homocysteine
Lab in B12/folate deficiency pancytopenia; hypersegmented neutrophils; ↑ homocysteine
Lab findings unique to B12 deficiency ↑ gastrin (pernicious anemia), ↑ methylmalonic acid
B12 reabsorbed absorbed after administration of intrinsic factor PA
B12 reabsorbed absorbed after administration of antibiotics bacterial overgrowth
B12 reabsorbed absorbed after administration of pancreatic extract chronic pancreatitis
Acute blood loss initially normal Hb and Hct; 0.9% saline uncovers RBC deficit
Aplastic anemia drugs (e.g., phenylbutazone); infection (e.g., parvovirus); benzene
Lab findings aplastic anemia pancytopenia; hypocellular bone marrow
Anemia in renal disease normocytic; decreased EPO
Extravascular hemolysis macrophage phagocytosis of RBCs; ↑ unconjugated bilirubin and urine UBG
Intravascular hemolysis ↓ serum haptoglobin; hemoglobinuria; hemosiderinuria
Congenital spherocytosis AD; defect in spectrin; extravascular hemolysis; splenomegaly
Blood findings in spherocytosis normocytic anemia; dense RBCs, ↑ MCHC, ↑ osmotic fragility
PNH missing decay accelerating factor; complement destruction RBCs, neutrophils, platelets
S/S PNH pancytopenia; hemoglobinuria; positive sugar water test and acidified serum test
HbSS AR; missense mutation (valine for glutamic acid 6th positive β-globin chain)
Causes of sickling ↑ deoxyhemoglobin (hypoxemia, acidosis); HbS > 60%
HbF inhibits sickling; hydroxyurea ↑ HbF
Pathophysiology HbSS vasoocclusive crises, hemolytic anemia (extravascular)
HbSS children dactylitis (6-9 months); Streptococcus pneumoniae sepsis (dysfunctional spleen)
HbSS osteomyelitis Salmonella paratyphi
HbSS complications aplastic crisis (parvovirus B-19), acute chest syndrome, autosplenectomy, calcium bilirubinate gallstones, priapism, aseptic necrosis
HbAS microhematuria from sickling in renal medulla; renal papillary necrosis
Hb electrophoresis HbAS-HbA 55-60%, HbS 40-45%; HbSS-HbS 90-95%, HbF 5-10%
Blood findings in HbSS sickle cells; target cells; Howell-Jolly bodies (nuclear remnants)
G6PD deficiency XR; oxidant damage (peroxide) to Hb (e.g., primaquine; dapsone; fava beans)
Blood findings G6PD deficiency Heinz bodies (denatured Hb; special stain); bite cells
Pyruvate kinase deficiency ↓ ATP; RBCs dehydrated; ↑ 2,3-BPG (right-shifted OBC)
Warm type AIHA IgG; extravascular hemolysis; e.g., SLE, drugs
Cold type AIHA IgM intravascular hemolysis; e.g., CLL, Mycoplasma
Penicillin IgG antibody against penicillin attached to RBC (type II hypersensitivity)
Methyldopa drug alters Rh antigens; IgG antibody against Rh antigens (type II hypersensitivity)
Quinidine drug-IgM IC; intravascular hemolysis; type III hypersensitivity
Lab findings AIHA positive direct Coombs’; spherocytes
Micro-macroangiopathic hemolysis mechanical damage causing intravascular hemolysis
Causes of micro/macro hemolysis aortic stenosis (MCC), DIC, TIP, HUS
Peripheral blood findings micro/macro hemolysis schistocytes; iron deficiency from hemoglobinuria
Malaria intravascular hemolysis correlates with fever; falciparum-ring forms and gametocytes
Leukemoid reaction exaggerated WBC response to infection; usually due to infection
Leukoerythroblastic reaction marrow infiltrative disease peripheralizes myeloblasts/nucleated RBCs
Causes of leukoerythroblastic reaction bone metastasis MCC, myelofibrosis
Eosinophilia type I hypersensitivity (e.g., penicillin reaction); invasive helminthic infection
Helminthes not producing eosinophilia pinworms, adult worms in ascariasis
Atypical lymphocytes mononucleosis; CMV; toxoplasmosis; viral hepatitis; phenytoin
Mononucleosis due to EBV; EBV attaches to CD21 receptors on B cells
Clinical findings mono exudative tonsillitis, generalized lymphadenopathy, hepatosplenomegaly
Lab findings mono atypical lymphocytosis; IgM heterophile antibodies against horse RBCs
Lymphopenia T cell deficiencies (HIV); combined B/T deficiency (adenine deaminase deficiency)
Lymphocytosis viral infections, whooping cough
Corticosteroids lymphopenia, eosinopenia, neutrophilia
Chronic MPD neoplastic stem cell disorder; splenomegaly; marrow fibrosis; risk for leukemia
Examples of MPD polycythemia vera, myelofibrosis and myeloid metaplasia
Relative polycythemia ↓ plasma volume; ↑ RBC count; normal RBC mass
Absolute polycythemia ↓ RBC count and RBC mass
Appropriate polycythemia hypoxic stimulus for EPO to generate RBCs
Causes of appropriate absolute polycythemia lung disease, cyanotic heart disease, high altitude
Appropriate absolute polycythemia normal plasma volume; ↑ RBC mass; ↓ SaO2; ↑ EPO
Inappropriate absolute polycythemia no hypoxic stimulus for EPO
Causes of inappropriate polycythemia ectopic secretion EPO, polycythemia vera
Polycythemia vera ↑ plasma volume and RBC mass; normal SaO2; ↓ EPO
Ectopic EPO (renal cell carcinoma) normal plasma volume; ↑ RBC mass; normal SaO2; ↑ EPO
Myelofibrosis myeloid metaplasia marrow fibrosis; extramedullary hematopoiesis; splenomegaly
Lab findings in myelofibrosis tear drop RBCs; dry bone marrow aspirate (marrow fibrosis)
Essential thrombocythemia MPO with increase in abnormal appearing platelets
Myelodysplastic syndrome severe anemia in elderly; 30% develop leukemia; ringed sideroblasts
Benzene aplastic anemia; acute leukemia
Leukemia by age ALL, newborn-14; AML, 15-60; CML, 40-60; CLL, >60
Acute vs. chronic leukemia acute, blasts >30% in bone marrow; chronic, blasts <10% in bone marrow
AML Auer rods in myeloblasts
Acute promyelocytic leukemia t(15;17); defect in retinoic acid; Rx retinoic acid (↑ maturation); DIC
Acute monocytic leukemia gum infiltration
CML t(9;22) of ABL POC; Philadelphia chromosome 22; ↓ alkaline phosphatase score
ALL early pre-B (80%); CALLA (CD10) and TdT positive; CNS and testicle involvement
ALL t(12;21) offers good prognosis
CLL B cell neoplasm; ↓ γ-globulins; MCC generalized lymphadenopathy patients> 60-yrs-old
Adult T cell leukemia HTLV-1; CD4 T cells; skin infiltration; lytic bone lesions with hypercalcemia
Hairy cell leukemia positive TRAP stain; splenomegaly; Rx with purine nucleosides
Nodal sites germinal follicles, B cells; paracortex, T cells; sinuses, histiocytes
Testicular cancer metastasizes to para-aortic nodes
Stomach cancer metastasizes to left supraclavicular nodes (Virchow node)
Phenytoin atypical lymphocytosis
Cat scratch disease Bartonella henselae; granulomatous microabscesses
Follicular B-cell lymphoma t(14;18); overexpression of BCL-2 anti-apoptosis gene
Burkitt lymphoma t(8;14); EBV association; common childhood NHL; “starry sky” appearance
Extra nodal lymphomas risk factors H. pylori (stomach); Sjogren’s syndrome
Mycosis fungoides CD4 T cell neoplasm; skin lesions with Pautrier’s microabscesses
Sezary syndrome leukemic phase of mycosis fungoides
Polyclonal gammopathy sign of chronic inflammation
Monoclonal gammopathy M component (spike); sign of plasma cell disorder
Confirmatory tests serum and urine immunoelectrophoresis; bone marrow aspirate
Bence Jones protein light chains in urine; predictive of a malignant plasma cell disorder
Multiple myeloma M spike; lytic bone lesions; pathologic fractures; hypercalcemia; renal failure
MGUS MC monoclonal gammopathy; may progress to myeloma
Findings in MGUS elderly patient; no BJ protein; no malignant plasma cells
Waldenstrom’s macroglobulinemia lymphoplasmacytic lymphoma; IgM M spike; hyperviscosity
Hodgkin’s lymphoma neoplastic component, Reed Stemberg (RS) cell; CD15 CD30 positive
Lymphocyte predominant Hodgkin’s infrequent classic RS cells
Nodular sclerosing Hodgkin’s female dominant; supraclavicular nodes + anterior mediastinal nodes
Mixed cellularity Hodgkin’s male dominant; numerous RS cells; EBV association
Hodgkin’s prognosis stage of disease and type of Hodgkin’s most important factors
Alkylating agents in Rx of Hodgkins ↑ risk for second malignancies (leukemia; NHL)
Langerhan’s histiocytes CD1 positive; Birbeck granules
Letterer-Siwe disease malignant histiocytosis <2 yrs old; diffuse eczematous rash; organ involvement
Hand-Christian-Christian disease malignant; lytic skull lesions, diabetes insipidus, exophthalmos
Eosinophilic granuloma benign histiocytosis; lytic bone lesions with pathologic fractures
Mast cells release histamine (pruritus; swelling); metachromatic granules positive with toluidine blue
Urticaria pigmentosum localized mastocytosis; skin lesions swell and itch with scratching
Amyloid twisted β-sheet; apple green birefringence with Congo red
Primary amyloidosis AL amyloid derived from light chains; plasma cell disorders
Secondary amyloidosis AA amyloid derived from serum-associated amyloid; chronic infections
Alzheimer’s disease amyloid precursor protein gene product chromosome 21; amyloid-β
Gaucher’s disease macrophages have fibrillary appearance; deficiency glucocerebrosidase
Niemann Pick’s disease macrophages have soap bubble appearance; deficiency sphingomyelinase
Hypersplenism splenomegaly; peripheral blood cytopenias; portal hypertension MCC
Splenic dysfunction Howell Jolly bodies; susceptible to Streptococcus pneumoniae sepsis
Anticoagulants tissue plasminogen activator, heparin, PGI2 ATIII, protein C/S
Heparin enhances ATIII activity (neutralizes all factors except V, VIII, fibrinogen)
Protein C/S neutralize V and VIII
Procoagulants coagulation factors, thromboxane A2 (platelet aggregation, vasoconstrictor)
Protein C and S inactivate factors V and VIII; enhance fibrinolysis
von Willebrand factor complexes with factor VIII to enhance VIII:C activity; platelet adhesion
Platelets receptors for von Willebrand factor and fibrinogen; synthesize thromboxane A2
GpIb platelet receptor for von Willebrand factor
GpIIb:IIIa platelet receptor for fibrinogen
Extrinsic system factor VII
Intrinsic system factors XII, XI, IX, VIII
Final common pathway factors X, V, prothrombin (II), fibrinogen (I)
Factor XIII cross-links insoluble fibrin; strengthens fibrin clots
Vitamin K-dependent factors prothrombin, VII, IX, X, protein C and S
Factors consumed in a clot fibrinogen, prothrombin, V, VIII; fluid is called serum
Plasmin cleaves fibrinogen and insoluble fibrin into degradation products
Bleeding time evaluates platelet function (adhesion, release reaction, aggregation)
Aspirin MCC of a prolonged bleeding time
Tests for vWF ristocetin cofactor assay; vWF antigen assay; agar electrophoresis
PT evaluates extrinsic pathway to fibrin clot
PTT evaluates intrinsic pathway to stable fibrin clot
Fibrinolysis tests fibrin(ogen) degradation products; D-dimers (cross-linked insoluble fibrin)
S/S platelet dysfunction cannot form temporary plug; epistaxis; petechiae; bleeding from scratches
Idiopathic thrombocytopenic purpura (ITP) children; antibodies against GpIIb:IIIa; no splenomegaly
Chronic autoimmune thrombocytopenic purpura SLE; antibodies against GpIIb:IIIa receptors
Heparin thrombocytopenia due to IgG antibody against heparin attached to PF4 on platelets
PF4 heparin neutralizing factor
HIV thrombocytopenia MC hematologic abnormality; similar to ITP
TTP platelet thrombi develop in areas of endothelial damage in small vessels; consumption of platelets
S/S fever, thrombocytopenia, renal failure, hemolytic anemia with schistocytes, CNS deficits
Lab findings TTP thrombocytopenia, prolonged bleeding time, normal PT and PTT
HUS similar to TTP; endothelial injury from Shiga-like toxin of 0157:H7 E. coli in undercooked beef
S/S factor deficiency no stable fibrin clot-late rebleeding; menorrhagia; GI bleeding; hemarthroses
Hemophilia A XR; hemarthroses; prolonged PTT, ↓ factor VIII activity, normal VIII antigen
von Willebrand’s disease AD; platelet adhesion defect + factor VIII deficiency
Lab findings in VWD ↓ vWF, VIII antigen, and VIII:C; prolonged bleeding time
Desmopressin acetate Rx of choice for mild von Willebrand’s disease and hemophilia A
Circulating anticoagulants antibodies destroy coagulation factors
Lab finding in circulating anticoagulant prolonged PT and/or PTT corrected with mixing studies
Vitamin K deficiency ↓ epoxide reductase activity (↓ function vitamin K); hemorrhagic diathesis; ↑ PT
Causes vitamin K deficiency antibiotics MC, newborn, malabsorption, warfarin
DIC activation coagulation system from release of tissue thromboplastin and/or endothelial cell damage
DIC consumption coagulation factors by fibrin clots; patient also anticoagulated
Causes septic shock MCC, rattlesnake bite, massive trauma, amniotic fluid
S/S bleeding from all scratches, holes, needle sites
Lab findings DIC thrombocytopenia, ↑ PT and PTT, D-dimers (best test), anemia
Antiphospholipid antibodies lupus anticoagulant and anticardiolipin antibodies; vessel thrombosis
Warfarin inhibits epoxide reductase; PT best test but PTT also prolonged
Warfarin full anticoagulation in 3 days when -carboxylated prothrombin disappears
Warfarin ingredient in rat poison; danger to children in households with grandparents on warfarin
Rx warfarin over anticoagulation intramuscular vitamin K (6-8 hrs), fresh frozen plasma (immediate)
Heparin enhances ATIII; PTT best test but PT also prolonged
OC estrogen ↑ coagulation factor synthesis and ATIII; predisposes to thrombosis
Factor V Leiden MC hereditary thrombosis; resistant to degradation by protein C/S
ATIII deficiency no prolongation of PTT with administration of heparin
Hemorrhagic skin necrosis post-warfarin therapy in patient with heterozygote protein C deficiency
M cells specialized cells that transfer foreign antigens to lymphocytes in Peyer’s .es
Blood group O some patients have anti-AB-IgG antibodies; increased incidence duodenal ulcers
Blood group A increased incidence of gastric carcinoma
Newborns do not have natural blood group antibodies at birth (e.g., anti-A-lgM)
Elderly may lose natural blood group antibodies; no hemolytic reaction to mismatched blood
Rh antigens inherited in autosomal codominant fashion; Rh antigens include D, C, c, E, e
Atypical antibodies antibodies against Rh or non-Rh blood group antigens (e.g., anti-D)
Duffy antigen receptor for Plasmodium vivax; blacks often lack Duffy antigen
Antibody screen indirect Coomb’s test; detects atypical antibodies in serum
Cytomegalovirus MC infection transmitted by blood transfusion; MC antibody
Hepatitis C MCC of post-transfusion hepatitis
Major crossmatch patient serum reacted against donor RBCs; does not guarantee RBC survival
Universal donor blood group O; no antigens on the surface of RBCs
Universal recipient blood group AB; no natural blood group antibodies in serum
Packed RBC transfusion raises Hb by 1 gm/dL and Hct by 3%
Cryoprecipitate fibrinogen and factor VIII
Fresh frozen plasma replacement for multiple factor deficiencies (e.g., cirrhosis, DIC)
Allergic transfusion reaction type I IgE-mediated hypersensitivity reaction
Febrile transfusion reaction recipient anti-HLA antibodies react against donor leukocytes
Intravascular HTR transfusion of ABO incompatible blood (e.g., A person receives B blood)
Extravascular HTR antibody attaches to donor RBCs; macrophage phagocytosis and hemolysis
Positive direct Coomb’s test present in both types of hemolytic transfusion reactions
S/S jaundice, no increase in Hb, hemoglobinuria
ABO HDN mother O and baby A or B; transplacental passage of maternal anti-AB-IgG
ABO HDN positive direct Coomb’s test; spherocytes; MCC unconjugated hyperbilirubinemia first 24 hrs
Rh HDN mother Rh (D antigen) negative and fetus Rh (O antigen) positive
Rh HDN no hemolysis in first Rh incompatible pregnancy
Rh HDN maternal anti-D crosses placenta; potential for hydrops fetalis; high risk for kernicterus
Rh immune globulin anti-D; coats D antigen site on fetal RBCs in maternal circulation
Rh HDN lab positive direct Coomb’s; severe anemia and hyperbilirubinemia
ABO HDN protects mother from Rh sensitization (development of anti-D antibodies)
O Rh negative mother with A Rh positive baby A+ cells destroyed by mothers anti A-lgM
Blue fluorescent light converts unconjugated bilirubin in skin into harmless water soluble dipyrrole
MV auscultation apex
TV auscultation left parasternal border
AV auscultation right 2nd intercostal space
PV auscultation left 2nd intercostal space
S1 closure MV and TV
S2 closure AV and PV
Inspiration split in A2 and P2; due to increased blood in right side of heart
S3 abnormal; due to blood entering volume overloaded ventricle in early diastole
Causes S3 valve regurgitation; congestive heart failure
S4 abnormal; due to blood entering non-compliant ventricle with atrial contraction in late diastole
Causes S4 volume overloaded ventricle, hypertrophy
Murmurs stretching valve ring or damage to valve
Inspiration increases right sided abnormal heart sounds and murmurs
Expiration increases left sided abnormal heart sounds and murmurs
Stenosis murmurs problem in opening valve
Regurgitation murmurs problem in closing valve
Valves opening in systole AV and PV
Valves opening in diastole MV and TV
Valves closing in systole MV and TV
Valves closing in diastole AV and PV
LDL primary vehicle for carrying cholesterol
VLDL primary vehicle for carrying liver-synthesized triglyceride
Familial hypercholesterolemia (type II) AD; deficiency of LDL receptors; ↑ LDL
Type III hyperlipoproteinemia deficiency apo E; ↑ remnants (chylomicron, intermediate density)
Type IV hyperlipoproteinemia ↑ VLDL; alcoholics
Apo B deficiency deficiency apo B48 (chylomicrons) and B100 (VLDL); ↓ CH and TG
Clinical findings in apo B deficiency malabsorption; hemolytic anemia
Atherosclerosis reaction to injury of endothelial cells
Risk factors smoking, ↑ LDL, ↑ homocysteine, Chlamydia pneumoniae infection
Cells involved platelets, macrophages, smooth muscle cells, T cells with cytokine release
Fibrous plaque pathognomonic lesion of atherosclerosis
C-reactive protein marker of an inflammatory atheromatous plaque
Inflammatory atheromatous plaque predisposes to platelet thrombosis
Increased plasma homocysteine ↑ vessel thrombosis; folate (MC)/vitamin B12 deficiency
Hyaline arteriolosclerosis small vessel disease of DM and hypertension; excess protein in vessel wall
Mechanisms hyaline arteriolosclerosis in DM non-enzymatic glycosylation
Non-enzymatic glycosylation glucose attaches to amino acids in BM; causes ↑ permeability to protein
Mechanisms hyaline arteriolosclerosis in hypertension pressure pushes proteins into vessel wall
Abdominal aortic aneurysm rupture due to atherosclerosis; flank pain, hypotension, pulsatile mass
Syphilitic aneurysm vasculitis of vasa vasorum of aortic arch; aortic regurgitation
Aortic dissection due to hypertension and collagen tissue disorders (e.g., Marfan)
Cystic medial degeneration elastic tissue degeneration creates spaces filled with mucopolysaccharides
Intimal tear in aorta due to wall stress from hypertension and structural weakness
Types of dissection proximal (MC); distal or combination of both
S/S proximal aortic dissection chest pain radiating to back, lack of pulse; cardiac tamponade MC COD
Marfan’s AD; fibrillin defect; aortic regurgitation/dissection; lens dislocation; MVP with sudden death
MC COD Marfan’s and Ehlers Danlos aortic dissection
Phlebothrombosis stasis of blood flow; deep veins below knee MC site
Pulmonary thromboembolism emboli originate from femoral veins
Superficial migratory thrombophlebitis sign of carcinoma of head of pancreas
Thoracic outlet syndrome absent radial pulse with positional change
Turner’s syndrome lymphedema hands/feet in newborn; preductal coarctation
Spider telangiectasia arteriovenous fistula; due to hyperestrinism (cirrhosis, pregnancy)
Capillary hemangioma in newborn regress with age; do not surgically remove
Kaposi’s sarcoma HHV-8; vascular malignancy; MC cancer in AIDS
Bacillary angiomatosis Bartonella henselae; vascular infection in AIDS
Small vessel vasculitis palpable purpura; e.g., Henoch Schonlein purpura
Muscular artery vasculitis vessel thrombosis with infarction; e.g., classical polyarteritis nodosa
Elastic artery vasculitis absent pulse, stroke
Takayasu’s arteritis pulseless disease; young Asian woman
Giant cell arteritis temporal artery granulomatous vasculitis; ipsilateral blindness (ophthalmic artery)
Classical polyarteritis nodosa muscular artery vasculitis with vessel thrombosis infarction
Path findings vessel inflammation at different stages; aneurysms from vessel weakness
S/S infarctions in kidneys, skin, GI tract, heart; HBsAg in 30%
Diagnosis angiography identifies aneurysms and thrombosis
Kawasaki’s disease coronary artery vasculitis/thrombosis/aneurysms in children
S/S chest pain; desquamating rash; swelling hands/feet; cervical lymphadenopathy
Rx IV γ-globulin
Buerger’s disease (thromboangiitis obliterans) smoker’s digital vasculitis; digital infarction
Raynaud’s syndrome digital vasculitis in PSS and CREST syndrome
S/S digital pain; white-blue-red color changes
Cryoglobulinemia protein gels in cold temperature; Raynaud’s syndrome; HCV association
S/S acral cyanosis relieved by coming indoors
Wegener’s granulomatosis association with c-ANCA; sinusitis, lung infarction, crescentic GN
Microscopic polyangiitis palpable purpura; crescentic GN; association with p-ANCA
Henoch-Schönlein purpura IgA-anti-IgA ICs; palpable purpura buttocks/legs; arthritis; IgA GN
Serum sickness vasculitis e.g., horse antivenin in Rx of rattlesnake envenomation
Rocky Mountain spotted fever tick borne
Rickettsia infection; vasculitis causes petechia on palms → trunk
Meningococcemia sepsis causes petechia/ecchymoses; potential for Waterhouse Friderichsen syndrome
Essential HTN blacks defect in renal excretion of sodium; ↑ plasma volume, ↓ PRA
Renovascular HTN atherosclerosis renal artery in men; fibromuscular hyperplasia renal artery women
S/S epigastric bruit; ↑ PRA affected kidney, ↓ PRA unaffected kidney
Endocrine HTN 1º HPTH, Graves/hypothyroidism, Cushing’s, 1º aldosteronism, phaeochromocytoma
Hypertension LVH MC complication; AMI MC COD followed by stroke and renal failure
Afterload resistance ventricles contract against
Preload volume ventricles must eject
Concentric LVH increased afterload; e.g., essential HTN, aortic stenosis
LVH with dilation/hypertrophy increased preload; e.g., valve regurgitation; left to right shunts
LHF forward failure; pulmonary edema, pillow orthopnea, paroxysmal nocturnal dyspnea
Systolic dysfunction LHF due to decreased ventricular contractility (ischemia)
Diastolic dysfunction LHF due to decreased ventricular compliance (hypertrophy)
RHF backward failure; ↑ venous hydrostatic pressure; neck vein distention, hepatomegaly, edema
ACE inhibitors decrease afterload and preload in heart failure
Diuretics in CHF reduce preload
Non-pharmacologic Rx in CHF restrict salt and water
AMI MC COD in United States; left anterior descending coronary artery thrombosis MCC
Exertional angina coronary artery atherosclerosis; subendocardial ischemia; ST depression
Prinzmetal’s angina coronary artery vasospasm; transmural ischemia; ST elevation
Sudden cardiac death death within 1 hr of symptoms
Path findings severe coronary artery atherosclerosis; absence of occlusive thrombosis
LAD coronary artery anterior portion left ventricle, anterior 2/3rds IVS
RCA posterior portion left ventricle and papillary muscle, inferior 1/3rd IVS, right ventricle
AMI rupture of inflammatory plaque produces platelet thrombus
Ventricular fibrillation MC COD in AMI
AMI no gross changes until 24 hrs
S/S AMI retrosternal pain radiating down arms, diaphoresis
AMI ruptures 3rd-7th day
Anterior wall rupture MC type; LAD thrombosis; cardiac tamponade
Posteromedial papillary muscle rupture RCA thrombosis; mitral regurgitation with LHF
IVS rupture LAD thrombosis; left to right shunt; RHF
Mural thrombus anterior AMI; danger embolization
Pericarditis first week in transmural AMI; 6 wks later autoimmune
S/S friction rub; leaning forward relieves pain
Ventricular aneurysms late manifestation of AMI; precordial systolic bulge; CHF MC COD
Right ventricular infarction RCA thrombosis; hypotension, RHF, preserved left ventricular function
Diagnosis of AMI CK-MB and troponins; CK-MB absent by 3 days; troponins last 7-10 days
LDH isoenzymes no longer used; LDH 1/2 flip indicates AMI
Reinfarction reappearance CK-MB after 3 days
ECG findings in AMI inverted T waves; ST elevation; Q waves
Ejection fraction EF = stroke volume/left ventricular end-diastolic volume; 80/120 = 0.66
By-pass surgery use internal mammary artery and saphenous veins (“arterialize” after 10 yrs)
Angioplasty complication localized dissection with thrombosis
Umbilical vein highest O2 saturation
Ductus arteriosis in fetus shunts blood from pulmonary artery to aorta; PGE keeps it open
Ductus arteriosus in newborn closes and becomes ligamentum arteriosum
Eisenmenger’s syndrome cyanosis due to reversal of left to right shunt
VSD MC congenital heart disease; ↑ SaO2 right ventricle (RV), pulmonary artery (PA)
ASD patent foramen ovale; ↑ SaO2 right atrium (RA), RV, PA; MC adult congenital heart disease
Down syndrome endocardial cushion defect (combined ASD and VSD)
PDA machinery murmur; close with indomethacin; ↑ SaO2 PA
Tetralogy of Fallot degree of pulmonic stenosis determines if cyanosis is present
Tetralogy of Fallot ↓ left ventricle, aorta
Tetralogy of Fallot ASD and PDA are cardioprotective
Complete transposition cyanosis; aorta empties RV; PA empties left ventricle
Complications cyanotic heart disease 2° polycythemia; infective endocarditis; metastatic abscesses
Pre-ductal coarctation Turner’s syndrome
Post-ductal coarctation constriction distal to ligamentum arteriosum
S/S upper extremity HTN; claudication; rib-notching; activation RAA also causes HTN
Acute rheumatic fever type II hypersensitivity; group A streptococcus pharyngeal infection
Acute rheumatic fever sterile vegetations mitral valve (regurgitation); myocarditis with Aschoff nodule
S/S polyarthritis (MC), carditis, erythema marginatum, rheumatoid nodules, chorea
Mitral stenosis chronic rheumatic fever; opening snap followed by mid-diastolic rumble
Mitral stenosis left atrial dilation hypertrophy - atrial fibrillation, thrombus, pulmonary edema, RHF
MVP myxomatous degeneration of mitral valve; common in Marfan syndrome, Ehlers Danlos
S/S mid-systolic click followed by a murmur; palpitations, chest pain, rupture of chordae
MVP click/murmur close to S1 decrease preload (stand, Valsalva, anxiety)
MVP click/murmur close to S2 increase preload (supine, squat, clench fist)
Mitral regurgitation pansystolic murmur; S3 and S4 common
Causes LHF, infective endocarditis, acute rheumatic fever
Aortic stenosis systolic ejection murmur; syncope and angina with exercise; hemolytic anemia
Aortic stenosis murmur increased preload worsens obstruction and increases murmur intensity
Aortic stenosis murmur decreased preload decreases obstruction and decreases murmur intensity
Causes bicuspid aortic valve; age-related sclerosis
Aortic regurgitation bounding pulses; early diastolic blowing murmur
Austin Flint murmur diastolic murmur; regurgitant flow on anterior leaflet mitral valve
Significance Austin Flint murmur sign for AV replacement
Causes aortic regurgitation essential HTN, infective endocarditis, acute rheumatic fever, dissection
Tricuspid regurgitation pansystolic murmur ↑ intensity with inspiration
Causes endocarditis IV drug abuse; RHF; carcinoid heart disease
Carcinoid heart disease tricuspid regurgitation, pulmonic stenosis
Infective endocarditis (IE) Streptococcus viridans MCC; Staphylococcus aureus MCC IVDA
IE prosthetic heart valve Staphylococcus epidermidis (coagulase negative)
IE ulcerative bowel disease Streptococcus bovis
S/S IC vasculitis-Roth spot, splinter hemorrhages; regurgitant murmurs; metas1atic abscesses
Lab findings positive blood culture Libman Sacks endocarditis
Coxsackievirus MCC of myocarditis (lymphocyte infiltrate in myocardium) and pericarditis
Parasitic cause myocarditis leishmania in Chagas disease
Pericardial effusion all chamber pressures are uniformally increased
S/S muffled heart sounds, pulsus paradoxus, inspiratory neck vein distention
Dx and Rx echocardiogram, pericardiocentesis, respectively
Pulsus paradoxus drop in blood pressure >10 mmHg with inspiration
Constrictive pericarditis TB MCC worldwide; pericardial knock
Congestive cardiomyopathy generalized chamber enlargement; low ejection fraction
Causes postpartum, cardiotoxic drugs, hypothyroidism, alcohol
Hypertrophic cardiomyopathy MCC of sudden death in young person (due to conduction defects)
Site of obstruction anterior leaflet mitral valve drawn against asymmetric thickened IVS
Effect decreased preload on systolic murmur worsens obstruction and increases murmur intensity
Effect increased preload on systolic murmur reduces obstruction and decreases murmur intensity
Restrictive cardiomyopathy decreased compliance
Causes iron, amyloid, glycogen; sarcoidosis; tropical endocardial fibrosis
Cardiac myxoma benign tumor left atrium; embolization; syncope
Cardiac rhabdomyoma childhood tumor; association with tuberous sclerosis
U wave hypokalemia; MCC diuretic therapy (e.g., thiazides; loop diuretics)
Peaked T wave hyperkalemia; MCC renal failure
ST depression subendocardial ischemia (e.g., classical angina pectoris)
ST elevation transmural ischemia (e.g., AMI), pericarditis, ventricular aneurysm
Atrial fibrillation MC chronic arrhythmia; absent P waves; danger for embolization
Ventricular premature beats wide QRS complexes; MC arrhythmia in coronary care unit
Ventricular fibrillation MCC of death in an AMI
Anterior AMI Q waves in I and V1-V4
Inferior AMI Q waves in II, III, and aVF; right coronary artery thrombosis.
Wolff-Parkinson-White short PR interval with normal P wave; delta wave on upstroke of R wave
Alveolar O2 calculation % O2 breathing (713) - PCO2/0.8
Increased A-a gradient primary lung disease; left to right shunts in heart
Forced vital capacity total amount of air expelled after a maximal inspiration
Forced expiratory volume/1 second (FEV1) amount of air expelled in I second after maximal inspiration
Choanal atresia cyanotic when breast feeding; turns pink when crying
Nasal polyps allergic (MC; adults only), aspirin, cystic fibrosis
Nasal polyp in a child requires sweat test to exclude cystic fibrosis
Triad asthma patient on aspirin (pain syndrome) with nasal polyps, asthma
Obstructive sleep apnea (OSA) snoring with intervals of apnea (respiratory acidosis with hypoxemia)
S/S danger cor pulmonale; requires sleep test; Rx. O2 with continuous positive airway pressure
Sinusitis maxillary sinusitis MC in adults; ethmoiditis MC in children; S. pneumoniae MC
Nasopharyngeal carcinoma association with EBV; metastasize to cervical nodes
Laryngeal carcinoma smoking MCC; hoarseness; squamous cell carcinoma
Resorption atelectasis MCC of fever 24-36 hours after surgery
S/S ↓ percussion; absent fremitus, breath sounds; inspiratory lag; elevated diaphragm
RDS decreased production surfactant; airway collapse; hyaline membranes
Type II pneumocytes synthesize surfactant (lecithin, phosphatidylcholine); stored in lamellar bodies
Surfactant reduces surface tension in airways; ↑ synthesis cortisol, thyroxine; ↓ synthesis insulin
Causes RDS prematurity, maternal diabetes, C-section
Maternal diabetes maternal hyperglycemia → fetal hyperglycemia → fetal insulin which ↓ surfactant
Complications RDS O2 FR injury (blindness, bronchopulmonary dysplasia); necrotizing enterocolitis
Typical community acquired pneumonia Streptococcus pneumoniae MCC
Typical pneumonia bronchopneumonia, lobar pneumonia
S/S productive cough; consolidation - ↓ percussion, ↑ tactile fremitus
Atypical community acquired pneumonia interstitial pneumonia; Mycoplasma pneumoniae MCC
S/S low grade fever, non-productive cough, no signs consolidation
Nosocomial pneumonia Pseudomonas, aeruginosa MCC (respirators); others - S. aureus, E. coli
Rhinovirus MCC common cold; hand to mouth transmission
Respiratory syncytial virus MCC pneumonia and bronchiolitis in child
Parainfluenza virus MCC croup in child; trachea area of obstruction
Cytomegalovirus basophilic intranuclear inclusion surrounded by halo
Influenza superimposed pneumonia with S. aureus increases mortality
Rubeola Warthin-Finkeldey multinucleated giant cells
Chlamydia pneumoniae atypical pneumonia; association with coronary artery disease
Chlamydia trachomatis pneumonia in newborns; staccato cough; wheezing
Coxiella burnetii only rickettsia without a vector
Mycoplasma pneumoniae pneumonia crowded condition; cold agglutinins; azithromycin
Streptococcus pneumoniae pneumonia gram positive diplococcus; azithromycin
Staphylococcus aureus pneumonia tension pneumatocysts in children with cystic fibrosis
Corynebacterium diphtheriae toxin produces ADP ribosylation of elongation factor 2
Haemophilus influenzae exacerbation chronic bronchitis; acute epiglottis in children
Inspiratory stridor child croup, epiglottitis
Pseudomonas aeruginosa MCC of pneumonia and death in cystic fibrosis; green sputum
Klebsiella pneumoniae mucoid sputum in alcoholic
Legionella pneumophila silver stain; water coolers/mist (grocery produce, restaurants, zoo rain forest)
Mycobacterium tuberculosis strict aerobe; MC COD due to infectious disease worldwide
Candida albicans vessel invader; yeasts and pseudohyphae
Cryptococcus immitis pigeon excreta; narrow-based bud
Aspergillus fumigatus septate hyphae with fruiting body; fungus ball, extrinsic asthma, vessel invader
Mucor species non-septate; vessel invader; frontal lobe abscess in diabetic ketoacidosis
Coccidioides immitis Southwest deserts; inhale arthrospores in dust; spherule with endospores
S/S erythema nodosum (painful nodules lower legs)
Histoplasma capsulatum Ohio/central Mississippi river valley; excreta bats (spelunker), chickens
H. capsulatum simulates TB; yeasts phagocytosed by macrophages
Blastomyces dermatitidis overlaps histoplasmosis; broad-based buds; skin lesion simulates cancer
Pneumocystis carinii cysts and trophozoites; pneumonia in HIV; Rx. trimethoprim/sulfamethoxazole
Primary TB upper portion lower lobe, lower portion upper lobe
Primary TB Ghon focus (subpleural caseation); Ghon complex (spread to hilar nodes)
Reactivation TB cavitating lesion in upper lobe; kidney MC extrapulmonary site
Mycobacterium avium intracellulare (MAI) atypical TB; MC TB in AIDS
CF AR; 3 nucleotide deletion chromosome 7; defective CFTR (degraded in Golgi apparatus)
S/S pneumonia, malabsorption, males sterile; + sweat test; P. aeruginosa pneumonia MC COD
Lung abscess MCC aspiration oropharyngeal material (mixed aerobe/anaerobe); x-ray - air/fluid level
Aspiration sitting posterobasal segment right lower lobe
Aspiration supine superior segment right lower lobe
Aspiration right side right middle lobe, posterior segment right upper lobe
Pulmonary thromboembolism most derive from femoral vein
Bronchial artery branch of aorta/intercostal artery; protects against developing pulmonary infarction
Saddle embolus sudden death due to acute right heart strain
S/S pulmonary infarction dyspnea and tachypnea; pleuritic chest pain; pleural effusion
Dx ventilation/perfusion scan; respiratory alkalosis; hypoxemia
Pain on inspiration pleuritic inflammation; pulmonary embolus, pneumonia, pneumothorax
Pathogenesis pulmonary hypertension (PH) hypoxemia and respiratory acidosis
Hypoxemia + respiratory acidosis vasoconstriction pulmonary vessels; vasodilation cerebral vessels
Causes PH 1° lung disease (COPD, restrictive), recurrent emboli, mitral stenosis, OSA, left-right shunts
Cor pulmonale PH + RVH
S/S dyspnea; accentuated P2 (PH); parasternal heave (RVH)
Restrictive lung disease ↓ compliance, ↑ elasticity; interstitial fibrosis/edema
Restrictive lung disease (RLD) ↓ all volumes and capacities; ↑ FEV1sec/FVC ratio
ARDS RLD; non-cardiogenic pulmonary edema due to alveolar injury
ARDS neutrophil destruction of type I and II pneumocytes; hyaline membranes
Causes septic shock (MC), aspiration gastric contents, severe trauma
Pneumoconiosis inhalation mineral dust causing interstitial fibrosis; particles <0.5 μm to reach alveoli
Caplan syndrome pneumoconiosis + rheumatoid nodules in lungs
Coal worker’s “black lung” disease; progressive massive fibrosis; no increased incidence cancer or TB
Silicosis quartz; nodular opacities; foundry workers; ↑ incidence cancer and TB
Sources asbestos roofing material, old buildings (9/11), pipe-fitter shipyard
Ferruginous bodies asbestos fiber coated by iron
Asbestosis benign pleural plaques (MC); bronchogenic carcinoma (MC cancer); mesothelioma
Mesothelioma malignancy of serosa; no smoking association
Sarcoidosis RLD; MC non-infectious lung and liver granulomatous disease
S/S dyspnea, hilar adenopathy (non-caseating granulomas), uveitis, nodular skin lesions
Lab findings ↑ ACE, hypercalcemia (macrophages synthesize 1-α-hydroxylase)
Kveim test intradermal injection sarcoid antigens causes skin reaction
Farmer’s lung RLD; lung reaction against thermophilic bacteria in moldy hay
Silo filler’s disease RLD; reaction against nitrogen dioxide in fermenting corn
Byssinosis RLD; reaction against cotton, linen, hemp products in textile industry
Goodpasture’s syndrome RLD; anti-BM antibodies; begins in lungs and ends in renal failure
Collagen vascular RLD SLE, rheumatoid arthritis, systemic sclerosis
Drugs RLD amiodarone, bleomycin, busulfan, cyclophosphamide, methotrexate, nitrofurantoin
Obstructive lung disease ↑ compliance, ↓ elasticity
Obstructive lung disease ↑ RV, TLC; ↓ TV, VC; ↓ FEV1sec and FVC; ↓ FEV1sec/FVC ratio
Obstructive lung disease asthma, emphysema, chronic bronchitis, bronchiectasis
Asthma extrinsic (type I hypersensitivity) and intrinsic types
S/S expiratory wheezing (inflamed terminal bronchioles); LTC4,-D4,-E4 bronchoconstrictors
Charcot-Leyden crystals derive from crystalline material in eosinophil granules
Lab findings initial respiratory alkalosis; respiratory acidosis requires intubation
Emphysema destruction elastic tissue respiratory unit; lung hyperinflation; smoking MCC; pink puffer
Respiratory unit respiratory bronchiole, alveolar duct, alveoli
Radiograph emphysema ↑ AP diameter; depressed diaphragms; vertical heart
Pathogenesis ↓ AAT, ↑ neutrophil destruction of elastic tissue
Centriacinar emphysema destruction/distention respiratory bronchioles upper lobe in smokers; THINK
Panacinar emphysema destruction/distention entire respiratory unit lower lobes; AAT deficiency
Paraseptal emphysema upper lobe destruction/distention alveolar ducts, alveoli; pneumothorax
Lab findings normal to decreased PCO2 (respiratory alkalosis)
Chronic bronchitis productive cough 3 months/2 consecutive years; blue bloater (cyanosis)
Site of obstruction terminal bronchioles (proximal to respiratory unit)
Lab findings respiratory acidosis/hypoxemia
Bronchiectasis obstruction/infection key causes; dilated bronchioles extend to periphery
Causes CF MCC, TB, immotile cilia syndrome
Immotile cilia syndrome absent dynein arm in cilia; sinusitis, infertility, bronchiectasis, situs inversus
Central lung cancers squamous cancer and small cell cancer; men > women
Peripheral lung cancers adenocarcinoma; women > men
Squamous lung cancer cavitate; secrete PTH-related protein
Small cell carcinoma neuroendocrine tumor; secrete ACTH and ADH
Bronchioloalveolar carcinoma no smoking relationship; lung consolidation resembling pneumonia
Scar carcinoma usually adenocarcinoma developing in old TB scar
Bronchial carcinoid low grade malignant; hemoptysis; rare cause carcinoid syndrome
Metastatic lung cancer more common than primary cancer; breast cancer MCC
Pancoast tumor squamous carcinoma posterior mediastinum; destruction superior cervical ganglion
S/S Horner’s syndrome - lid lag, miosis, anhydrosis; lower brachial plexus injury
Solitary coin lesion granuloma MCC
Superior vena caval syndrome primary lung cancer obstructs vessel; venous congestion
Anterior mediastinal masses thymoma; nodular sclerosing Hodgkin’s; teratomas
Posterior mediastinal masses usually neurogenic tumors of ganglia
Myasthenia gravis B cell hyperplasia of thymus MC abnormality; association with thymoma
Thymoma association with hypogammaglobulinemia, autoimmune disease, pure RBC aplasia
Pleural effusions transudates or exudates; CHF MCC
Spontaneous pneumothorax rupture subpleural or intrapleural bleb; air/pleural cavity pressure same
S/S pleuritic chest pain, dyspnea, tracheal shift ipsilateral side, absent breath sounds
Tension pneumothorax flap-like pleural tear; increased pleural cavity pressure; compression atelectasis
S/S as above except tracheal shift to opposite side
Cleft lip/palate failure of fusion of facial processes
Herpes labialis multinucleated giant cell with acidophilic intranuclear inclusions on Tzanck prep
Hairy leukoplakia EBV glossitis; pre-AIDS defining lesion; not precursor to cancer
Mumps bilateral parotitis; unilateral orchitis; ↑ amylase
Diphtheria pseudomembrane pharynx and trachea with cervical lymphadenopathy
Congenital syphilis notched central incisors
Actinomycosis anaerobic gram + filamentous bacteria; complication extracted dental abscess
S/S draining sinuses with sulfur granules
Exudative tonsillitis majority are viral; 20% group A streptococcus
Oral thrush common in newborn; pre-AIDS defining lesion; yeasts and pseudohyphae
Dental caries Streptococcus mutans
Peutz-Jegher’s syndrome mucosal pigmentation; hamartomatous polyps
Leukoplakia/erythroleukoplakia biopsy to rule out squamous dysplasia or cancer
Squamous cell carcinoma smoking and alcohol association; lower lip MC site
Smokeless tobacco verrucoid squamous cell carcinoma
Gum hyperplasia phenytoin, pregnancy, scurvy
Pleomorphic adenoma MC benign tumor of salivary glands; parotid MC site
Mucoepidermoid carcinoma MC malignant tumor major and minor salivary glands
Dysphagia for solids only lesion obstructing esophagus; e.g., cancer, web
Plummer-Vinson syndrome iron deficiency anemia causes esophageal web, glossitis, achlorhydria (↓ HCl in gastric acid)
Dysphagia for solids and liquids motor abnormality; e.g., achalasia MCC, PSS or CREST syndrome
TE fistula polyhydramnios; proximal esophagus ends blindly; distal esophagus derives from trachea
VATER syndrome vertebral abnormalities, anal atresia, TE fistula, renal disease/radius abnormality
Zenker’s diverticulum MC pulsion diverticulum of esophagus; halitosis (stinky breath, food gets stuck); near UES
GERD relaxation of lower esophageal sphincter (LES) with acid reflux
GERD MCC nocturnal cough and asthma
AIDS esophagitis Candida MC, CMV, HSV
Barrett’s esophagus glandular metaplasia distal esophagus in GERD
Complications of Barrett’s precursor for adenocarcinoma, stricture
Esophageal varices dilated left gastric vein; sign of portal hypertension due to cirrhosis
Mallory Weiss syndrome tear of distal esophagus from retching in alcoholic or bulimic
Boerhaave’s syndrome rupture of distal esophagus from retching; pneumomediastinum
Hamman’s mediastinal crunch pneumomediastinum (air in subcutaneous tissue)
LES ganglion cells contain VIP - relaxes LES
Achalasia failure of LES relaxation (no VIP); absent ganglion cells in the myenteric plexus
S/S aperistalsis/dilation of esophagus; regurgitation of undigested food at night
X-ray achalasia bird’s beak appearance
Acquired achalasia Chagas’ disease; leishmania destroy ganglion cells
Distal adenocarcinoma esophagus MC primary cancer; due to Barrett’s esophagus
Squamous cell carcinoma of esophagus smoking MCC; alcohol also causes
Melena sign of upper GI bleed; acid changes Hb to hematin; peptic ulcer disease MCC
Hematemesis vomiting blood; peptic ulcers MCC
Congenital pyloric stenosis hypertrophy pyloric muscle; vomiting non-bile stained fluid in 2-4 weeks
Acute hemorrhagic (erosive) gastritis NSAIDs MCC
Mucous barrier stomach maintained by PGE; misoprostol PGE analog
Type A chronic gastritis due to PA; achlorhydria with ↑ serum gastrin
Type B chronic gastritis due to H. pylori; involves pylorus and antrum
H. pylori curved rod; urease producer; MCC PUD, adenocarcinoma, gastric lymphoma
Gastric ulcer lesser curvature pylorus and antrum; poor defense against acid; food aggravates pain
Duodenal ulcer never malignant; ↑ acid production; food relieves pain
Perforated peptic ulcer air under diaphragm causes pain in left shoulder
Menetrier’s disease giant rugal hyperplasia; protein loss from increased mucus
Zollinger-Ellison syndrome malignant islet cell tumor secreting gastrin; part of MEN I syndrome
S/S PUD in usual locations; sometimes multiple ulcers
Hypergastrinemia ZE, achlorhydria, gastric distention, H2 or proton blockers; renal failure
Leiomyoma MC benign tumor of stomach
Intestinal type adenocarcinoma H pylori related; ↓ incidence; lesser curvature pylorus/antrum
Diffuse type adenocarcinoma linitis plastica; signet ring cells; Krukenberg tumors ovaries
Gastric lymphoma stomach MC site for extranodal lymphomas; H. pylori associated
Malabsorption steatorrhea; chronic pancreatitis, bile salt deficiency, small bowel disease
Causes bile salt deficiency liver disease, bile salt resins, cholestasis, bacterial overgrowth, Crohn’s
D-xylose screen failure to reabsorb xylose indicates small bowel disease
Calcification of pancreas chronic pancreatitis cause of malabsorption
Celiac disease autoimmune disease; antibodies against gliadin in gluten; flat villi
Celiac disease association with dermatitis herpetiformis
Whipple’s disease systemic infection; foamy macrophages with bacteria (PAS+ inclusions) in small bowel submucosa
S/S fever, polyarthritis, skin pigmentation
Invasive diarrhea Campylobacter jejuni MCC; positive fecal smear for leukocytes
Secretory diarrhea loss isotonic fluid; enterotoxins from E. coli and V. cholerae
Osmotic diarrhea hypotonic loss fluid; laxatives, lactase deficiency
Rotavirus MCC diarrhea in children
Norwalk virus MCC diarrhea in adults
Cytomegalovirus common cause diarrhea in AIDS; MCC cholecystitis and pancreatitis in AIDS
Staphylococcus aureus preformed toxin causes food poisoning; culture food
Bacillus cereus preformed toxin in fried rice and tacos; gram positive rods in stool
Clostridium botulinum (adult) preformed neurotoxin (blocks acetylcholine release); paralysis and mydriasis
Clostridium botulinum (child) colonization of bowel with release of neurotoxin; eating honey
Clostridium difficile pseudomembranous colitis; post-antibiotics; toxin assay stool; Rx metronidazole
Shigella sonnei produces dysentery (bloody diarrhea); associated with HUS
Salmonella enteritidis gastroenteritis; animal reservoirs - poultry, turtles
Salmonella paratyphi sepsis; osteomyelitis in HbSS
Salmonella typhi typhoid fever; human transmission; bradycardia, neutropenia, splenomegaly
Carrier state site gallbladder
M. tuberculosis MCC intestinal TB in United States (swallow TB); Peyer’s . site of infection
Enterotoxigenic E. coli secretory diarrhea (traveler’s diarrhea); toxin stimulates guanylate cyclase
Vibrio cholerae secretory diarrhea; toxin stimulates adenylate cyclase to produce cAMP
Oral Rx cholera solution must contain glucose to reabsorb Na+ (co-transport)
Yersinia enterocolitica mesenteric lymphadenitis; sepsis in iron overload states
Entamoeba histolytica dysentery; trophozoites phagocytose RBCs; liver abscess; Rx metronidazole
Cryptosporidium parvum MCC diarrhea in AIDS; acid-fast oocysts
Giardia lamblia MC protozoal cause of diarrhea; cause of malabsorption; Rx metronidazole
Trichuris trichiura rectal prolapse in children
Enterobius vermicularis anal pruritus; urethritis in girls; no eosinophilia
Ascaris lumbricoides intestinal obstruction due to adult worms; no eosinophilia
Necator americanus hookworm; iron deficiency anemia
Strongyloides stercoralis rhabditiform larvae in stool not eggs
Diphyllobothrium latum fish tapeworm; vitamin B12 deficiency
Signs of small bowel obstruction colicky pain; constipation and obstipation
Radiograph small bowel obstruction air-fluid levels on x-ray
MCC small bowel obstruction adhesions from previous surgery
Duodenal atresia vomiting bile-stained fluid at birth; double bubble sign; Down syndrome
Hirschsprung disease absent ganglion cells in submucosal/myenteric plexus rectosigmoid
S/S proximal bowel dilated but peristalses; no stool in rectal vault
Hirschsprung association Down syndrome; Chagas disease
Intussusception terminal ileum telescopes into cecum; obstruction plus bloody diarrhea
Meconium ileus complication of cystic fibrosis
Indirect inguinal hernia second MCC of small bowel obstruction; common in weight lifting
Gallstone ileus obstruction of small bowel with gallstone + air in biliary tree
Volvulus MC due to sigmoid colon twisting around mesentery
Direct inguinal hernia protrudes through center of triangle of Hesselbach; no obstruction
Umbilical hernia common in black children; may entrap bowel in adults
Sigmoid colon MC site for polyps, cancer, diverticula
Small bowel infarction diffuse abdominal pain with bloody diarrhea
Causes small bowel infarction embolism (atrial fibrillation), thrombosis SMA or SMV
Ischemic colitis splenic flexure pain with bloody diarrhea
Mesenteric angina pain in splenic flexure 30 minutes after eating
Angiodysplasia submucosal dilation of venules in cecum; cause of hematochezia
Hematochezia massive loss of blood per rectum; diverticulosis MCC
Meckel’s diverticulum persistence omphalomesenteric duct
S/S bleeding MC (iron deficiency in children), diverticulitis
Meckel’s diverticulitis mimics acute appendicitis; cannot differentiate without radionuclide scan
Sigmoid diverticulum diverticulitis MC complication; MCC hematochezia and fistula formation
Diverticulitis “left-sided acute appendicitis”
Ulcerative colitis mucosal/submucosal ulceration; starts in rectum; crypt abscess; ↑ risk adenocarcinoma
S/S left lower quadrant crampy pain with bloody diarrhea
UC associations primary sclerosing cholangitis, seronegative HLA B27 + spondyloarthropathy
Crohn’s disease transmural inflammation; terminal ileum involved 80%; granulomas; skip lesions
S/S colicky pain and diarrhea; fistulas (anal, bowl to bowel)
Carcinoid tumor appendix MC site; terminal ileum MC site for carcinoid syndrome
Carcinoid syndrome liver metastasis; flushing/diarrhea due to serotonin; increased urine 5-HIAA
Tubular adenomas precursor lesion colon cancer; size and number determine risk of malignancy
Villous adenoma greatest risk for colon cancer (30%); secrete mucus rich in protein and potassium
Familial polyposis AD with 100% penetrance for developing colon cancer
Gardner’s syndrome AD, polyposis plus osteomas and desmoid tumors
Turcot’s syndrome AD, polyposis plus brain tumors
Colorectal cancer second MC cancer and cancer killer in adults
Left-sided colorectal cancer obstruct; MC location rectosigmoid
Right-sided colorectal cancer bleed
Acute appendicitis due to lymphoid hyperplasia in children and obstruction by fecalith in adults
External hemorrhoids thrombose
Internal hemorrhoids bleed; prolapse out of rectum
Urobilinogen (UBG) breakdown product CB in bowel (color of stool)
UBG enterohepatic circulation to liver and kidney (color of urine)
Alcoholic liver disease serum AST>ALT; ↑ serum GGT
Viral hepatitis serum ALT>AST
Cholestasis markers serum AP and GGT
Unconjugated bilirubin macrophage degradation of heme; lipid soluble; never in urine
Conjugated bilirubin (CB) water soluble; never normal in urine
% CB <20% (unconjugated) Gilberts, spherocytosis, physiologic jaundice newborn, ABO/Rh HDN
Gilbert’s disease AD; ↓ uptake and conjugation; bilirubin increases with fasting
Physiologic jaundice newborn unconjugated hyperbilirubinemia; begins on day three
% CB 20-50% viral/alcoholic hepatitis
% CB >50% bile duct obstruction (intra or extrahepatic); carcinoma head of pancreas
Negative urine bilirubin + trace urobilinogen normal urine
Positive urine bilirubin, absent urobilinogen obstructive jaundice
Positive urine bilirubin + increased urobilinogen hepatitis
Negative urine bilirubin + increased urobilinogen extravascular hemolytic anemia
Markers of severity of liver disease albumin, PT
Hepatitis A protective antibodies; day care centers, jails, homosexuals, traveling; not chronic
Hepatitis B protective antibodies; accidental needle stick, IVDA; hepatocellular carcinoma
Hepatitis C no protective antibodies; post-transfusion hepatitis; chronic state; hepatocellular carcinoma
Hepatitis D no protective antibodies; requires HBsAg to replicate
Anti-HBs alone vaccination
Anti-HBs + anti-HBc-IgG recovered from HBV
HBsAg + HBeAg + HBVDNA + anti-HBc-IgM acute HBV/chronic HBV infective carrier if >6 months
Anti HBc-IgM alone serologic gap; not infective
HBsAg + anti-HBc-IgM chronic HBV healthy carrier
Fulminant hepatic failure viral hepatitis and acetaminophen MCCs
Spontaneous peritonitis E. coli in adults; S. pneumoniae in children; complication of ascites
Granulomatous hepatitis TB MC bacteria
Amebiasis Entamoeba histolytica; flash shaped ulcers in cecum; liver abscess; Rx
Echinococcosis Echinococcus granulosis; sheep dog definitive host; man intermediate host
Schistosomiasis Schistosoma mansoni; adult worms in portal vein; “pipe stem cirrhosis”
Clonorchiasis Clonorchis sinensis; ingesting encysted larvae in fish; cholangiocarcinoma
Congestive hepatomegaly (centrilobular necrosis) “nutmeg” liver; RHF MCC
Hepatic vein thrombosis Budd-Chiari syndrome; painful hepatomegaly; ascites; portal hypertension
Portal vein thrombosis ascites, portal hypertension, no hepatomegaly
Alcohol related disorders fatty change; alcoholic hepatitis; cirrhosis
Hypertriglyceridemia in alcoholics ↑ synthesis of glycerol 3P (substrate for TG synthesis)
Hypoglycemia in alcoholics ↓ gluconeogenesis (↑ NADH causes pyruvate to convert to lactate)
Ketoacidosis in alcoholics ↑ lactate, ↑ ßOHB (acetyl CoA converted to AcAc and then ßOHB)
Primary biliary cirrhosis granulomatous destruction triad bile ducts; anti-mitochondrial antibody
Primary sclerosing cholangitis association with ulcerative colitis; MCC of cholangiocarcinoma
Extrahepatic biliary atresia neonatal cholestasis
Drugs causing hepatitis acetaminophen, isoniazid, halothane
Anabolic steroids intrahepatic cholestasis
Estrogen/oral contraceptives intrahepatic cholestasis; hepatic adenoma (intraperitoneal hemorrhage)
Methotrexate liver fibrosis, fatty change
Liver angiosarcoma vinyl chloride
Hemochromatosis AR; increased iron reabsorption; liver target organ
S/S cirrhosis; “bronze diabetes” - skin pigmentation + destruction of islet cells; malabsorption
Lab ↑ serum ferritin, iron, % saturation; ↓ TIBC
Wilson’s disease AR disease; defect in copper excretion in bile and synthesis of ceruloplasmin
S/S cirrhosis, movement disorder (necrosis in putamen), Kayser Fleisher ring (Descemet’s membrane)
Lab ↓ ceruloplasmin (causes ↓ total copper); ↑ serum/urine free copper
HELLP syndrome pre-eclampsia; Hemolytic anemia, ELevated transaminases, Low Platelets
AAT deficiency in child AR, cannot secrete AAT from liver cell; cirrhosis; hepatocellular carcinoma
Reye syndrome coma and microvesicular fatty change post viral infection; increased ammonia
Cirrhosis irreversible fibrosis; regenerative nodules; portal hypertension
Causes cirrhosis alcohol (MC), HBV/HCV, hemochromatosis, Wilson’s, AAT deficiency, 1° biliary
Hepatic encephalopathy mental status changes; ↑ serum ammonia
Portal hypertension ascites; varices; splenomegaly; hemorrhoids; caput medusae
Cause of ascites portal hypertension; hypoalbuminemia; secondary aldosteronism
Rx use aldosterone blocker (acidosis increases loss ammonium in stool)
Hyperestrinism in men gynecomastia; spider angiomas; female hair distribution
Lab findings cirrhosis ↓ BUN, glucose, sodium, potassium, calcium (↓ vitamin D); ↑ PT
Liver cell adenoma estrogen related (steroids, oral contraceptives); intraperitoneal hemorrhage
Liver cancer metastasis MC cancer; lung cancer MC primary site
Hepatocellular carcinoma chronic HBV and HCV MCC; ↑ AFP; hepatic/portal vein invasion
Cholangiocarcinoma primary sclerosing cholangitis MCC, C.C sinensis
Pathogenesis of cholesterol stones bile with too much cholesterol and too little bile salts
Black pigment stones sign of extravascular hemolytic anemia (spherocytosis, HbSS)
Acute cholecystitis stone impacted in cystic duct; right upper quadrant colicky pain with radiation to shoulder
Chronic cholecystitis chemical inflammation
Gallbladder cancer risk factors - cholelithiasis and porcelain gallbladder
Acute pancreatitis causes - alcohol and gallstones; ↑ amylase and lipase (more specific)
S/S epigastric pain with radiation into back
Sentinel loop localized ileus of duodenum due to acute pancreatitis
Pancreatic pseudocyst abdominal mass; persistence of ↑ serum amylase >1 week
Chronic pancreatitis alcohol abuse, CF; malabsorption, pain, type I diabetes
Pancreatic cancer smoking MCC
S/S jaundice/acholic (gray/pale) stools; palpable gallbladder; superficial migratory thrombophlebitis (Trousseau's sign); ↑ CA 19-9
First sign tubule cell dysfunction inability to concentrate urine
Fixed specific gravity chronic renal failure; cannot concentrate or dilute urine
Negative urine bilirubin + trace urobilinogen normal urine
Positive urine bilirubin, absent urobilinogen obstructive jaundice
Positive urine bilirubin + increased urobilinogen hepatitis
Negative urine bilirubin + increased urobilinogen extravascular hemolytic anemia
Positive urine nitrite + positive urine leukocyte esterase urinary tract infection
Sterile pyuria positive urine leukocyte esterase but negative standard culture; TB, C. trachomatis
Prerenal azotemia ↑ BUN and creatinine; ↓ renal blood flow (e.g. heart failure, hypovolemia)
Renal azotemia ↑ BUN and creatinine due to intrinsic renal disease (acute tubular necrosis)
Postrenal azotemia ↑ BUN and creatinine due to obstruction to urine flow
Serum BUN:creatinine ratio <15:1 (renal failure); >15:1 (prerenal or postrenal azotemia)
BUN 80 mg/dL:creatinine 8 mg/dL ratio 10/1 - renal failure
BUN 80 mg/dL:creatinine 2 mg/dL ratio 40/1 - prerenal azotemia or postrenal azotemia
Creatinine clearance measures GFR
Proteinuria important sign of renal dysfunction
RBC casts nephritic type of glomerulonephritis
WBC casts acute pyelonephritis, acute tubulointerstitial nephritis
Fatty casts with Maltese crosses nephrotic syndrome
Hyaline casts normal unless associated with proteinuria
Renal tubular cell casts acute tubular necrosis
Waxy or broad casts chronic renal failure
Cystinuria hexagonal crystals
Horseshoe kidney Turner’s syndrome; lower poles fused
Renal dysplasia MC childhood cystic disease; abnormal development; flank mass
Maternal oligohydramnios fetal juvenile polycystic kidney disease; Potter’s facies in newborn
Adult polycystic kidney disease AD; hypertension MC sign; cerebral berry aneurysms
Visceral epithelial cells synthesize basement membrane
Glomerular BM negative charge due to heparan sulfate
Nephritic syndrome oliguria; RBC casts; hypertension; mild to moderate proteinuria
Nephrotic syndrome proteinuria >3.5 g/day; ascites and pitting edema; fatty casts; fusion of podocytes
Immunofluorescence linear (anti-glomerular BM antibodies); granular (IC deposition)
IgA GN MC GN; usually nephritic; episodic hematuria; mesangial IC (lgA-anti-IgA) deposits
Post-streptococcal GN nephritic; subepithelial deposits; skin/pharyngeal infections; anti-DNAase B
SLE type IV GN nephritic; subendothelial deposits; anti-DNA antibodies
Crescentic GN crescents from parietal cell proliferation; worst GN; Goodpasture’s, Wegener’s
Goodpasture’s nephritic; anti-BM antibodies (glomerular + pulmonary capillary); crescentic GN
S/S young male with hemoptysis progressing to renal failure
Minimal change disease (lipoid nephrosis) MCC childhood nephrotic syndrome
Lipoid nephrosis podocyte fusion; loss of negative charge in glomerular BM
Focal segmental glomerulosclerosis nephrotic syndrome; AIDS and IV heroin abuse
Membranous GN MCC adult nephrotic syndrome; subepithelial deposits; epimembranous spikes
Causes membranous GN HBV, ACE inhibitors, cancer
Type I MPGN nephrotic; subepithelial deposits; HCV association; tram tracks
Type II MPGN nephrotic; C3 nephritic factor; intramembranous ICs (dense deposit disease)
DM nodular glomerulosclerosis microalbuminuria first sign
DM glomerulosclerosis nodules with collagen in mesangium; hyaline arteriolosclerosis of arterioles
ACE inhibitors inhibit angiotensin II vasoconstriction of efferent arterioles
Alport’s syndrome XD hereditary nephritis with sensorineural hearing loss
Ischemic ATN prerenal azotemia MCC; renal tubular cell casts; BUN:creatinine ratio <15:1
Ischemic ATN disruption of BM in proximal tubule and thick ascending limb
Nephrotoxic ATN aminoglycosides, IVP dye, Pb/mercury poisoning
Nephrotoxic ATN proximal tubule dysfunction; intact BM
Oliguria prerenal azotemia, ATN, glomerulonephritis, postrenal azotemia
Acute pyelonephritis vesicoureteral reflux with ascending infection; WBC casts, fever, flank pain
Chronic pyelonephritis U-shaped scars overlying blunt calyces
Drug-induced tubulointerstitial nephritis type I/IV reaction; e.g., penicillin
S/S ARF, fever, rash, eosinophilia, eosinophiluria, WBC casts
Analgesic nephropathy aspirin plus acetaminophen; renal papillary necrosis; IVP with ring defect
Myeloma kidney BJ protein produces foreign body reaction in tubules
Urate nephropathy prevent by giving allopurinol prior to chemotherapy
CRF fixed specific gravity; BUN:creatinine <15:1; waxy and broad casts
Renal osteodystrophy CRF hypovitaminosis D (no 1-α-hydroxylase); produces osteomalacia
Renal osteodystrophy CRF osteoporosis from metabolic acidosis
Renal osteodystrophy CRF secondary HPTH with increased osteoclastic activity
S/S CRF pericarditis, prolonged bleeding time, normocytic anemia, pathologic fractures
Benign nephrosclerosis kidney of hypertension; shrunken kidneys due to hyaline arteriolosclerosis
Malignant hypertension renal failure; encephalopathy; BP >210/120 mm Hg; IV nitroprusside
Renal findings necrotizing arteriolitis; “flea bitten” kidney; hyperplastic arteriolosclerosis
Renal infarction pale infarcts; hematuria; common in polyarteritis nodosa
Hydronephrosis renal stone MCC; atrophy of cortex/medulla; postrenal azotemia
Renal stones most contain calcium (calcium oxalate/phosphate); hypercalciuria MC risk factor
S/S colicky pain radiating into groin, hematuria; x-ray usually shows stone
Staghorn calculus due to urease producing organisms (Proteus); alkaline urine pH; ammonia smell
Angiomyolipoma hamartoma; associated with tuberous sclerosis
Renal cell carcinoma smoking MCC; invasion renal vein/vena cava; lung, bone mets; yellow colored
S/S flank mass, hematuria; ectopic hormones (EPO, PTH related peptide), left-sided varicocele
Renal pelvis transitional cell carcinoma smoking MCC, phenacetin, aniline dyes, cyclophosphamide
Wilm’s tumor hypertension, unilateral abdominal mass in child; aniridia/hemihypertrophy in AD types
Urine draining from umbilicus persistent urachus
Retroperitoneal fibrosis produces hydronephrosis
Bladder extrophy abdominal wall defect + epispadias
Bladder diverticula most commonly due to prostatic hyperplasia with urethral obstruction
Acute cystitis E. coli; females > males; no fever, flank pain, or WBC casts
Bladder transitional cell carcinoma smoking MCC, aniline dyes, cyclophosphamide; papillary
S/S hematuria; hydronephrosis
Bladder adenocarcinoma risk factors persistent urachus, extrophy
Bladder squamous cell carcinoma Schistosoma hematobium infection
Hypospadias ventral opening on penis due to failure closure of urethral folds
Epispadias dorsal opening on penis due to defect in genital tubercle
Peyronie’s disease painful curvature penis due to fibromatosis
Priapism persistent/painful erection; HbSS
Squamous cell carcinoma penis HPV and lack of circumcision most important risk factors
Cryptorchidism undescended testis; risk for seminoma applies to cryptorchid testis and normal testis
Orchitis mumps usually unilateral (infertility uncommon)
Epididymitis <35 - N. gonorrhoeae, C. trachomatis; >35 - E. coli, P. aeruginosa
S/S scrotal pain relieved by elevation of scrotum (Prehn’s sign)
Varicocele left-sided scrotal mass; spermatic vein drains into left renal vein; infertility common
Varicocele may be due to invasion of left renal vein by renal cell carcinoma
Hydrocele persistent tunica vaginalis; scrotum transilluminates
Torsion of testicle testicle high in canal; absent cremasteric reflex
Testicular cancer unilateral painless mass that does not transilluminate
Risk factors cryptorchid testis, Klinefelter’s, testicular feminization
Seminoma MC cancer; radiosensitive; large cells with lymphoid infiltrate; small percentage have ↑hCG
Spermatocytic variant >65 yrs of age
Embryonal carcinoma hemorrhage/necrosis; hematogenous spread before lymphatic; ↑AFP, hCG
Yolk sac tumor MC testicular cancer in boys; ↑AFP
Choriocarcinoma most aggressive testicle cancer; ↑hCG
Teratoma more often benign in children than adult
Teratocarcinoma teratoma + embryonal carcinoma
Malignant lymphoma MC type in elderly; metastasis not primary cancer
Prostate DHT derived stimulation embryo; periurethral area - hyperplasia; peripheral area - cancer
Prostatitis perineal pain, fever; WBCs at end of voiding
Benign prostatic hyperplasia DHT/estrogen-mediated; glandular/smooth muscle hyperplasia
S/S all men develop; urethral obstruction MC (hesitancy, dribbling, nocturia), hematuria, dysuria Rx
Prostate cancer DHT-mediated; palpable with rectal exam; osteoblastic metastasis (↑ AP)
PSA sensitive but not specific for prostate cancer; ↑ in hyperplasia
Kallmann’s syndrome absent GnRH, anosmia, absence of taste
Impotence failure to sustain an erection; psychogenic in most cases (erections present at night)
Erection parasympathetic response
Ejaculation sympathetic response
Leydig cell failure ↑ LH; ↓ testosterone, sperm count; normal FSH
Seminiferous tubule failure ↑ FSH (↓inhibin); ↓ sperm count; normal LH and testosterone
Leydig and seminiferous tubule failure ↑ FSH and LH; ↓ testosterone and sperm count
Y chromosome determines genetic sex
Testosterone develops seminal vesicles, epididymis, vas deferens
Dihydrotestosterone (DHT) develops prostate and male external genitalia
Male pseudohermaphrodite genetic male; phenotypically female
Testicular feminization XR; deficient androgen receptors; MCC male pseudohermaphrodite
Klinefelter’s syndrome XXY; 1 Barr body; female secondary sex characteristics
Herpes genitalis recurrent painful vesicles; multinucleated squamous cells with intranuclear inclusions
Human papilloma virus condyloma acuminata; koilocytosis (wrinkled nuclei surrounded by a halo)
Chlamydia trachomatis metaplastic squamous cells with vacuoles containing elementary bodies
S/S non-specific urethritis, cervicitis, PID, ophthalmia neonatorum
Neisseria gonorhoeae urethritis, cervicitis, PID; ophthalmia neonatorum, gram negative diplococcus
Ophthalmia neonatorum first week N gonorrhoeae
Ophthalmia neonatorum second week C. trachomatis
Lymphogranuloma venereum C. trachomatis subtype
S/S scrotal/vulva lymphedema; granulomatous microabscesses; rectal strictures in females
Chancroid painful ulcer, adenopathy, Hemophilus ducreyi
Granuloma inguinale Calymmatobacterium granulomatis; raised ulceration but no lymphadenopathy
Treponema pallidum spirochete; produces vasculitis of arterioles (plasma cell infiltrate)
Primary syphilis painless chancre
Secondary syphilis rash on palms/soles; condyloma lata; generalized adenopathy
Tertiary syphilis neurosyphilis (e.g., tabes dorsalis), aortic arch aneurysm, gummas
RPR/VDRL reagin antibodies against cardiolipin; ↓ titer with Rx of syphilis
RPR/VDRL false positive with anticardiolipin antibodies (common in SLE)
FTA-ABS confirmatory test for syphilis; not distinguish active from treated disease
FTA-ABS remains positive after Rx
Trichomonas vaginalis flagellate protozoan; cervicitis/vaginitis; Rx metronidazole both partners
Gardnerella vaginalis vaginal pH >5; bacterial vaginosis; clue cells; Rx metronidazole
Candida vaginitis white, curd-like discharge; DM, antibiotics, pregnancy; Rx fluconazole
Vulvar squamous cancer MC vulvar cancer; HPV association
Vulvar leukoplakia biopsy to R/O squamous dysplasia/cancer
Lichen sclerosis vulva epidermal atrophy; slight risk for squamous cancer
Squamous hyperplasia vulva leukoplakia; no cancer risk
Paget’s disease intraepithelial adenocarcinoma (mucin production) of vulva
Malignant melanoma vulva location; similar to Paget cells but not mucin positive
Gartner’s duct cyst lateral wall vagina; persistent mesonephric duct
Embryonal rhabdomyosarcoma bloody, grape-like vaginal mass young girl
Vaginal adenosis maternal exposure to DES; precursor clear cell adenocarcinoma vagina
Vaginal squamous cancer usually extension of cervical cancer
Rokitansky-Kiister-Hauser absence of vagina and uterus
Nabothian cysts endocervical glands covered by metaplastic squamous epithelium
Pathologic cervicitis trichomonas, HSV-2, C. trachomatis (follicular cervicitis)
Cervical Pap superficial squamous (estrogen), intermediate (progesterone), parabasal (no hormone)
Normal 70% superficial, 30% intermediate
Atrophic 100% parabasal cells
Hyperestrinism 100% superficial cells
Pregnancy 100% intermediate cells
Endocervical cells sign of adequately performed Pap smear
Cervical polyp bleeding after intercourse; non-neoplastic
Cervical dysplasia begins in transformation zone; associated with low and high risk HPV
Risk factors cervical dysplasia/cancer early onset sexual activity; multiple partners; smoking; OC
CIN cervical intraepithelial dysplasia; mild, moderate, severe (in-situ)
Cervical cancer ↓ incidence (Pap smear); 45-yr-old; COD renal failure from obstruction of ureters
S/S cervical discharge; bleeding after intercourse
Sequence to menarche breast budding, growth spurt, pubic hair, axillary hair, menarche
Proliferative phase cycle estrogen-dependent; ↑estrogen inhibits FSH and stimulates LH
Ovulation day 14-I6; LH surge; subnuclear vacuoles; ↑body temperature
Secretory phase cycle progesterone-dependent
Menses drop in estrogen/progesterone stimulates apoptosis; plasmin prevents clotting
FSH stimulates follicle and aromatase synthesis in granulosa cells
LH stimulates androgen synthesis in proliferative phase and progesterone synthesis in secretory phase
Day 21 day of implantation of fertilized egg
Pregnancy ↑plasma volume > RBC mass; ↑GFR; ↑thyroxine/cortisol (increased binding proteins)
hCG LH analogue produced by syncytiotrophoblast
hCG stimulates corpus luteum of pregnancy to synthesize progesterone for 8-10 weeks
Estrone estrogen of postmenopausal woman; aromatization of adrenal androstenedione
Estradiol estrogen of non-pregnant woman in reproductive life; aromatization of testosterone
Estriol estrogen of pregnancy
Menopause ↑ FSH (best screen; due to ↓estrogen), ↑LH
S/S secondary amenorrhea, hot flushes
Hirsutism ↑ hair in normal areas
Virilization hirsutism + male secondary sex characteristics (clitoromegaly)
Test for hirsutism/virilization ↑ testosterone - ovarian source; ↑DHEA-sulfate - adrenal source
Polycystic ovarian syndrome (POS) ↑ LH; ↓ FSH; ↑ estrogen and androgens
S/S hirsutism, oligomenorrhea, infertility; enlarged ovaries with subcortical cysts; LH:FSH >2:1
Menorrhagia excess menstrual flow; MCC iron deficiency in women
Dysmenorrhea painful menses; 1° PGF2α, 2° endometriosis
DUB bleeding related to hormone rather than anatomic causes
Anovulatory DUB menarche and perimenopause; estrogen excess without progesterone
Ovulatory DUB irregular shedding, inadequate luteal phase
Primary amenorrhea no menses by 16 years old
Secondary amenorrhea no menses for 3 months
Amenorrhea-hypothalamic/pituitary dysfunction ↓ FSH/LH; e.g., hypopituitarism
Amenorrhea-ovarian dysfunction ↑FSH/LH; e.g., Turner’s syndrome
Amenorrhea-end-organ disease normal FSH/LH; e.g., imperforate hymen
Asherman syndrome surgical removal of stratum basalis
Primary amenorrhea-normal secondary sex characteristics constitutional delay MCC
Primary amenorrhea-lack secondary sex characteristics Turner’s
Turner’s syndrome XO; no Barr bodies; XO/XY types have gonadoblastomas; streak gonads (no eggs)
S/S newborn with lymphedema hands/feet; cystic hygroma in neck (web); short stature; 1° amenorrhea
Secondary amenorrhea pregnancy MCC; prolactinoma; anorexia nervosa; pituitary adenoma
Asherman syndrome removal of stratum basalis causing scarring; secondary amenorrhea
Endometritis group B streptococcus; intrauterine device (Actinomyces); chronic - plasma cells
Endometrial polyp menorrhagia; not a precursor for endometrial cancer
Adenomyosis functioning endometrial glands and stroma in myometrium; enlarged uterus
Endometriosis functioning glands and stroma outside uterus; reverse menses; ovary MC site
S/S dysmenorrhea, painful stooling, bowel obstruction; “powder burn” appearance
Endometrial hyperplasia unopposed estrogen; simple/complex types; precursor endometrial cancer
Causes obesity, estrogen Rx, polycystic ovarian syndrome
Endometrial cancer obesity, nulliparity, estrogen Rx, early menarche/late menopause; OC protective
S/S bleeding in postmenopausal woman
Leiomyoma uterus menorrhagia, obstructive delivery; not a precursor for leiomyosarcoma
Leiomyosarcoma MC sarcoma
Ectopic pregnancy PID MC risk factor; intraperitoneal hemorrhage; screen with ß-hCG
Follicular cyst MC ovarian mass in young woman
Risk factors ovarian tumors nulliparity and genetic factors; OC protective
Serous ovarian tumors surface-derived; ↑ bilaterality; psammoma bodies in malignant type
Mucinous ovarian tumors surface-derived; pseudomyxoma peritonei in malignant type
Endometrioid carcinoma resembles endometrial cancer; association with endometriosis
Cystic teratoma MC benign germ cell tumor (<1% malignant); hair/teeth; calcifications
Dysgerminoma MC malignant germ cell tumor; associated with streak gonads of Turners
Yolk sac tumor MC germ cell tumor young girl; ↑AFP; Schiller-Duval bodies
Meigs syndrome ovarian fibroma, ascites, right-sided pleural effusion
Granulosa tumor low grade malignant; hyperestrinism, Call Exner bodies
Thecoma benign; yellow color; hyperestrinism
Leydig cell and Sertoli cell tumors hyperandrogenism
Gonadoblastoma XY phenotype of Turner’s
Krukenberg tumors metastatic stomach cancer; signet ring cells
Single umbilical artery ↑ incidence congenital defects
Syncytiotrophoblast lining of villi; produces hCG and human placental lactogen
Human placental lactogen responsible for mild glucose intolerance in pregnancy
Abruptio placenta retroplacental clot; painful bleeding; hypertension, cocaine, smoking
Placenta previa placenta implanted over cervical os; painless bleeding
Placenta accreta direct implantation into myometrium without intervening decidua; hysterectomy
Twin placenta monochorionic always identical twins; dichorionic may be identical or fraternal
Siamese twins monoamniotic monochorionic twin placenta
Enlarged placenta DM, Rh HDN, syphilis
Complete mole benign neoplasm of chorionic villi; dilated villi; no embryo; 46 XX (both male)
S/S preeclampsia in first trimester; ↑ incidence choriocarcinoma
Partial mole embryo present; 68 XXY; no transformation into choriocarcinoma
Choriocarcinoma malignancy of trophoblastic tissue (syncytiotrophoblast, cytotrophoblast)
Risk factors complete mole (MC), spontaneous abortion, normal pregnancy
S/S ↑hCG; lung metastasis; good prognosis
Chorioamnionitis group B streptococcus (S. agalactiae) infection
Preeclampsia abnormal placentation causing placental ischemia; ↑ in vasoconstrictors (ATII)
S/S hypertension, proteinuria, pitting edema; begins in third trimester
Spontaneous abortion 50% have karyotype deformity (trisomy 16)
Amniotic fluid fetal urine
Polyhydramnios TE fistula, duodenal atresia, open neural tube defects
Oligohydramnios infantile polycystic disease
↑ Serum AFP open neural tube defect
↓ Serum AFP Down syndrome
Urine estriol fetal adrenal, placental, maternal liver involved in its production
Down syndrome triad ↑ ß-hCG, ↓ serum AFP, ↓ urine estriol
Fibrocystic change MC breast mass <50-yrs-old; atypical hyperplasia cancer risk; lumpy, painful breasts
Sclerosing adenosis component of FCC; involves terminal lobules often has microcalcifications
Fibroadenoma benign stromal tumor; MC movable mass in women <<35-yrs-old
Intraductal papilloma benign tumor lactiferous duct/sinus; MCC bloody nipple discharge <50-yr-old
Invasive ductal cancer MCC breast mass in woman >50-yrs-old
Breast cancer risk unopposed estrogen; family history first-degree relatives
Breast cancer painless mass upper outer quadrant in woman >50-yrs-old
Mammography screening test to detect non-palpable masses
Palpable breast mass order fine needle aspiration (not a mammogram)
Ductal carcinoma in situ necrotic centers (comedo); microcalcifications common
Paget’s disease of breast invasive ductal cancer into nipple; Paget’s cells similar to vulvar Paget’s
Medullary carcinoma bulky tumor with large cells and lymphoid infiltrate; more common in Pt with BRCA 1 mutation
Inflammatory carcinoma orange peel appearance; lymphatics blocked by tumor (lymphedema)
Lobular cancer MC cancer of terminal lobule; ↑ bilaterality
Phyllodes tumor low grade malignant tumor of stroma
ER-PR positive tumors tumors responding to hormones; candidate for tamoxifen (anti-estrogen)
ERB-B2 oncogene positive breast cancer aggressive breast cancer
Gynecomastia estrogen stimulation of male breast
Gynecomastia normal in newborn, puberty (no surgery), old age; (micronodular) cirrhosis MC pathologic cause
Overactive endocrine syndrome most often adenomas; use suppression tests (most do not suppress)
Tumors that suppress prolactinoma (bromocriptine), pituitary Cushings (high dose dexamethasone)
Underactive endocrine syndrome autoimmune destruction MCC; stimulation tests
Hypopituitarism adults non-functioning adenoma MCC, Sheehan’s postpartum necrosis (stop lactation)
Hypopituitarism in children craniopharyngioma (Rathke’s pouch remnant) MCC; visual field defects
S/S ↓ FSH and LH amenorrhea, ↓ testosterone in male
Growth hormone functions muscle growth, gluconeogenesis; release of insulin growth factor (IGF)
IGF synthesized in liver; bone and cartilage growth
S/S ↓ GH/IGF in children growth retardation; ↓ height and weight
Sleep and arginine infusion stimulation tests for GH and IGF
S/S ↓ GH/IGF in adults hypoglycemia
S/S ↓ TSH secondary hypothyroidism; ↓ T4, ↓ TSH; muscle weakness, dry skin
S/S ↓ ACTH secondary hypocortisolism; ↓ cortisol, ↓ ACTH; fatigue; hypoglycemia
Metyrapone stimulation test for ACTH reserve
Metyrapone blocks adrenal 11-hydroxylase → ↑ ACTH and 11-deoxycortisol (proximal to block)
Metyrapone test ↓ ACTH and 11-deoxycortisol pituitary/hypothalamic dysfunction
Metyrapone test ↑ ACTH and 11-deoxycortisol Addison's disease
Diabetes insipidus loss ADH (central), refractory to ADH (nephrogenic); always diluting urine
Central diabetes insipidus (CDI) ↓ UOsm and ↑ POsm with water deprivation; vasopressin causes ↑ UOsm > 50%
Causes CDI pituitary stalk transection, hypothalamic lesion (site for ADH synthesis)
Nephrogenic diabetes insipidus (NDI) ↓ UOsm and ↑ POsm with water deprivation; vasopressin causes ↑ UOsm < 50%
Causes NDI lithium, demeclocycline, nephrocalcinosis, severe hypokalemia
Gigantism GH secreting pituitary adenoma before epiphyses have fused
Acromegaly GH secreting pituitary adenoma after epiphyses have fused
S/S acromegaly cardiomyopathy; large hands, feet, jaw; hyperglycemia
Prolactin inhibited by dopamine
Prolactinoma MC pituitary tumor; secondary amenorrhea and galactorrhea; prolactin inhibits GnRH
Rx surgery or bromocriptine (dopamine analog)
Other causes hyperprolactinemia primary hypothyroidism, drugs
Inappropriate ADH syndrome hyponatremia <120 mEq/L; ↑ UOsm (always concentrating urine)
Causes small cell carcinoma lung, CNS injury, chlorpropamide
Rx restrict water; demeclocycline in small cell carcinoma
Serum T4 ↑ or ↓ in free hormone or thyroid binding globulin (TBG)
↑ Serum T4 and normal TSH ↑ TBG; due to ↑ in estrogen
↑ Serum T4 and ↓ TSH thyrotoxicosis
↓ Serum T4 and normal TSH ↓ TBG; due to anabolic steroids
↓ Serum T4 and ↑ TSH primary hypothyroidism
↓ Serum T4 and ↓ TSH secondary hypothyroidism
TSH negative feedback with T4 and T3; best screening test
I131 uptake ↑ in Graves; ↓ in thyroiditis, patient taking excess thyroid, hypothyroidism
Cold nodule non-functioning nodule; no uptake I131
Hot nodule functioning nodule; ↑ uptake I131
Thyroglossal duct cyst midline cystic mass
Branchial cleft cyst cyst in anterolateral neck
Acute/subacute thyroiditis painful thyroid; early thyrotoxicosis; ↓ I131 uptake
Hashimoto’s thyroiditis MCC hypothyroidism; HLA Dr3/Dr5; inhibitory IgG TSH receptor antibody
Hashimoto’s thyroiditis ↑ anti microsomal and thyroglobulin antibodies
S/S muscle weakness, periorbital puffiness, ↓ reflexes, diastolic hypertension, constipation, dry skin
Lab ↓ T4, ↑ TSH
Cretinism maternal hypothyroidism before fetal thyroid developed, genetic disorder
S/S mental retardation; short stature and increased weight; coarse skin
Thyrotoxicosis any cause ↑ thyroid hormone activity; Graves disease, excess hormone, thyroiditis
Hyperthyroidism ↑ synthesis thyroid hormone; Graves disease and toxic nodular goiter
Graves disease autoantibody against TSH receptor (type II reaction); HLA Dr3
S/S unique to Graves exophthalmos, pretibial myxedema
S/S thyrotoxicosis tachycardia/atrial fibrillation, systolic hypertension, diarrhea, brisk reflexes
Lab thyrotoxicosis ↑ T4, ↓ TSH, ↑ glucose, ↑ calcium
I131 uptake ↑ Graves, toxic nodular goiter; ↓ thyroiditis, excess hormone, hypothyroidism
Rx Graves disease ß-blocker; drug to decrease hormone synthesis (propylthiouracil)
Toxic nodular goiter hyperthyroidism; develops out of a multinodular goiter; no exophthalmos
Goiter enlarged thyroid; iodine deficiency MCC; relative thyroid hormone deficiency
S/S rapid enlargement due to hemorrhage into cyst; Rx thyroxine
Solitary thyroid nodule woman most often benign (cyst)
Solitary thyroid nodule man or child often malignant
Papillary carcinoma thyroid MC thyroid cancer; radiation exposure; psammoma bodies
Follicular carcinoma thyroid invades blood vessels
Medullary carcinoma thyroid parafollicular cells; calcitonin; amyloid (calcitonin conversion)
MEN I syndrome 3 P's; pituitary tumor, parathyroid adenoma, pancreatic tumor (ZE or ß-islet cell tumor)
MEN IIa syndrome 2 P's; medullary carcinoma thyroid, pheochromocytoma, parathyroid adenoma
MEN IIb syndrome 1 P; medullary carcinoma thyroid, pheochromocytoma, mucosal neuromas
Alkalotic pH tetany with normal total calcium, ↓ ionized calcium and ↑ PTH
Hypoalbuminemia ↓ total calcium, normal ionized calcium and PTH
Tetany ↓ ionized calcium level; threshold potential comes closer to resting potential
S/S thumb adducts into palm, twitching after tapping of facial nerve
PTH maintains ionized Ca2+; ↑ Ca2+ renal reabsorption; ↓ phosphate/bicarbonate reabsorption in kidneys
Primary HPTH ↑ Ca2+, hypophosphatemia, ↑ PTH
Cause adenoma MCC, hyperplasia, cancer
S/S renal stone, peptic ulcers, pancreatitis, hypertension, metastatic calcification
Secondary HPTH ↓ Ca2+, ↑ PTH; hypovitaminosis D from renal failure MCC
Malignancy-induced hypercalcemia ↑ Ca2+, ↓ PTH; all other non-parathyroid causes same results
Causes hypercalcemia osteolytic lesions, sarcoidosis, ↑ vitamin D, PTH-related peptide, myeloma
Tertiary HPTH hypercalcemia developing from secondary HPTH
Primary hypoparathyroidism ↓ Ca2+ and ↓ PTH
Causes previous thyroid surgery, autoimmune, DiGeorge syndrome
S/S tetany; calcification basal ganglia
Pseudohypoparathyroidism ↓ Ca2+ with normal to ↑ PTH; end-organ resistance to PTH
Other causes ↓ Ca2+ hypomagnesemia (↓ PTH), ↓ vitamin D, DiGeorge
↓ Ca2+ and ↓ PTH primary hypoparathyroidism
↓ Ca2+ and ↑ PTH secondary hyperparathyroidism
↑ Ca2+ and ↑ PTH primary hyperparathyroidism
↑ Ca2+ and ↓ PTH malignancy induced hypercalcemia; other causes hypercalcemia
Waterhouse-Friderichsen syndrome meningococcemia with bilateral adrenal hemorrhage due to DIC
Addison’s disease autoimmune destruction adrenal cortex MCC, adrenogenital syndrome, metastasis
S/S hypotension (salt loss), hyperpigmentation (ACTH), hypoglycemia
Lab ↓ sodium, ↓ cortisol, ↑ potassium, ↑ ACTH
Adrenogenital syndrome AR; enzyme deficiency; hypocortisolism; hyperpigmentation from ↑ ACTH
21-Hydroxylase deficiency ↑ 17 KS, ↓ 17 OH, lose salt, hypotension; female pseudohermaphrodite
11-Hydroxylase deficiency ↑ 17 KS, ↑ 17 OH, retain salt, hypertension; female pseudohermaphrodite
17-Hydroxylase deficiency ↓ 17 KS, ↓ 17 OH, retain salt, hypertension; male pseudohermaphrodite
MCC Cushings long-term corticosteroid therapy
Tests Cushings syndrome low/high dose dexamethasone suppression; urine free cortisol (best test)
Normal dexamethasone suppression cortisol analogue; ↓ ACTH and ↑ cortisol
Pituitary Cushings MCC Cushing’s; ACTH secreting pituitary tumor
Lab low dose dexamethasone not suppress cortisol; high dose suppresses
Adrenal Cushings adrenal adenoma secreting cortisol; suppressed ACTH
Lab no suppression with low/high dose dexamethasone
Ectopic Cushings ACTH secreting small cell carcinoma of lung; high ACTH and cortisol levels
Lab no suppression with low/high dose dexamethasone
S/S Cushings purple stria, truncal obesity, hypertension, DM
Primary aldosteronism benign adenoma in zona glomerulosa
S/S hypertension and muscle weakness (hypokalemia), no pitting edema
Lab hypernatremia, hypokalemia, metabolic alkalosis, ↑ urine K+ and Na+
Pheochromocytoma benign tumor in adrenal medulla in adults
Associations von Hippel Lindau, neurofibromatosis, MEN IIa and IIb
S/S labile hypertension, anxiety, sweating, headache
Lab ↑ 24 hr urine for VMA and metanephrines
Neuroblastoma malignant tumor adrenal medulla child; widespread metastasis; hypertension
ß-islet cell tumor (insulinoma) benign tumor; hypoglycemia, ↑ insulin and C-peptide
Patient taking excess insulin hypoglycemia, ↑ insulin, ↓ C-peptide
Glucagonoma malignant α-islet cell tumor; hyperglycemia and rash
Zollinger Ellison syndrome malignant islet cell tumor secreting gastrin; peptic ulcers
Somatostatinoma malignant δ islet cell tumor; DM, malabsorption, cholelithiasis, achlorhydria
VIPoma malignant islet cell tumor; diarrhea, hypokalemia, achlorhydria
DM organ damage correlates with glycemic control
Type 1 young, thin person; no insulin; HLA DR3/4; insulitis; islet cell antibodies; ketoacidosis
Type 2 older person; obese; relative insulin deficiency (↓ insulin receptors, postreceptor problems)
Type 2 family history; fibrotic islet cells with amyloid; hyperosmolar nonketotic coma
↑ Non-enzymatic glycosylation glucose attaches to amino acids in basement membranes
Non-enzymatic glycosylation ↑ vessel permeability producing hyaline arteriolosclerosis
Osmotic damage glucose converted into sorbitol by aldose reductase
Osmotic damage lens (cataracts), Schwann cell (neuropathy), pericytes retinal vessels (microaneurysms)
Pathogenesis hyperglycemia ↑ gluconeogenesis (most important), glycogenolysis
Pathogenesis hyperlipidemia no insulin to stimulate capillary lipoprotein lipase; ↑ chylomicrons/VLDL
Pathogenesis ketoacidosis ↑ oxidation fatty acids with excess acetyl CoA; liver synthesis ketone bodies
Most commons due to DM neuropathy, blindness, CRF, hyperglycemia, non-traumatic amputation
Glycosylated HbA1c measure of long term glycemic control (8-12 weeks)
Gestational DM ↑ placental size, human placental lactogen
Complications macrosomia (↑ muscle/fat from insulin), RDS, newborn hypoglycemia (↑ insulin)
Hypoglycemia insulin/oral hypoglycemics MCC, liver disease; carnitine deficiency
Carnitine deficiency no ß-oxidation of fatty acids; all cells compete for glucose
Monosodium urate crystals (MSU) yellow when parallel to slow ray of compensator
Calcium pyrophosphate crystals (pseudogout) blue when parallel to slow ray of compensator
Osteoarthritis degeneration articular cartilage; subchondral cysts; eburnation; osteophytes at margins
Joints weight bearing (femoral head); DIP joint (Heberden’s nodes), PIP joints (Bouchard nodes)
Neuropathic joint 2° to neurologic disease; DM, syringomyelia, tabes dorsalis
Rheumatoid arthritis (RA) female dominant; HLA Dr4
RF IgM antibody against Fc portion IgG; causes inflammation of synovial tissue
Pannus inflamed hyperplastic synovial tissue destroys articular cartilage; joint fusion
Joints MCP and PIP joints
S/S morning stiffness; ulnar deviation of hands; carpal tunnel (entrapped median nerve)
Rx methotrexate often used as initial therapy, aspirin
Sjogren’s syndrome destruction lacrimal and minor salivary glands; RA; anti-SS-Ro/SS-La (SSa and SSb)
S/S dry eyes and dry mouth
Caplan syndrome pneumoconiosis + rheumatoid nodules in lungs
Felty’s syndrome RA + splenomegaly with hypersplenism
Gouty arthritis underexcretion of uric acid; big toe first affected; tophus in soft tissue sign chronic gout
Gout associations alcohol, Pb poisoning
Tophus MSU crystals produce foreign body giant cell reaction next to joint
Uricosuric agents probenecid and sulfinpyrazone
Allopurinol ↓ synthesis uric acid; xanthine oxidase inhibitor
Pseudogout involves knee; linear calcification in articular cartilage
Ankylosing spondylitis HLA-B27 seronegative (RF negative) spondyloarthropathy; male dominant
S/S sacroiliitis; bamboo spine causing kyphosis; aortitis; uveitis
Associations C. trachomatis MC, psoriasis, ulcerative colitis, Shigella, Campylobacter, Yersinia
Reiter’s syndrome HLA-B27; Chlamydia urethritis; arthritis; conjunctivitis; Achilles tendon periostitis
Osteomyelitis children hematogenous spread of Staphylococcus aureus to metaphysis
Osteomyelitis in HbSS Salmonella paratyphi
Pseudomonas aeruginosa osteomyelitis puncture of foot when wearing rubber foot wear
Tuberculous osteomyelitis usually involves vertebra (Pott’s disease)
Disseminated gonococcemia female dominant; C6-C9 deficiency
Disseminated gonococcemia septic arthritis (knee); tendinitis/synovitis and skin pustules in feet/wrists
Lyme disease bite Ixodes tick; Borrelia burgdorjeri; reservoirs white footed mouse, white tailed deer
Early S/S erythematous concentric rash (erythema chronicum migrans), Rx doxycycline
Late S/S arthritis, Bell’s palsy (often bilateral), myocarditis, Rx doxycycline
Babesiosis carried by Ixodes tick; Babesia are intraerythrocytic parasites; hemolytic anemia
Cat bite potential for Pasteurella multocida septic arthritis
Osgood Schlatter’s inflammation proximal tibial apophysis at patellar tendon insertion; knobby knee
Osteogenesis imperfecta AD; ↓ synthesis type I collagen; pathologic fractures; blue sclera
Blue sclera reflection choroidal veins
Achondroplasia AD; impaired enchondral calcification and premature closure of epiphyses
S/S normal head/vertebral column, short extremities
Osteopetrosis AD/AR; osteoclast defect; too much bone; pathologic fractures
Osteoporosis ↓ bone mass and density; pathologic fractures
Postmenopausal osteoporosis estrogen deficiency - ↑ osteoclastic activity, ↓ osteoblastic activity
S/S vertebral compression fractures, Colles fracture
Colles fracture fractured distal radius with dinner fork appearance
Prevention estrogen (under investigation), calcium, vitamin D, stress exercises (walking, weight lifting)
Aseptic necrosis femoral head femoral head fracture, corticosteroids, sickle cell disease; MRI best test
Scaphoid bone fracture aseptic necrosis in wrist bone
Volkmann’s ischemic contracture fracture of distal radius; damage to brachial artery and median nerve
Legg-Perthe’s disease aseptic necrosis of ossification center (femoral head) in children
Paget’s disease elderly males; lytic/blastic bone lesions produce thick, weak bone
S/S pathologic fractures; ↑ serum AP; ↑ risk for osteogenic sarcoma
Osteoid osteoma radiolucent lesion in cortex proximal femur; nocturnal pain relieved by aspirin
Osteogenic sarcoma adolescent male; RB suppressor gene association; distal femur; ↑ AP
Radiograph “sunburst” appearance, Codman’s triangle
Ewing’s sarcoma primitive neuroectodermal tumor; round cell tumor
Radiograph “onion skinning”
Osteochondroma MC benign bone tumor; exophytic growth off metaphysis of distal femur
Chondrosarcoma MC malignant cartilaginous tumor; pelvic bones, proximal femur
Giant cell tumor epiphysis distal femur/proximal tibia; giant cells + neoplastic mononuclear cells
Muscle weakness primary muscle disease, neurosynapse disease, neurogenic disease
Duchenne’s muscular dystrophy XR; deficiency dystrophin; ↑ serum CK at birth; waddling gait
Dystrophin attaches portions of cell membrane to sarcomere; important in contraction
Becker’s dystrophy XR, defective dystrophin
Myotonic dystrophy AD; trinucleotide repeat disorder; cannot release grip
Myasthenia gravis autoantibody against acetylcholine receptors (type II); thymic hyperplasia B cells
S/S diplopia at end of day first sign; dysphagia solids/liquids upper esophagus; thymoma
Dupuytren’s contracture fibromatosis palmar fascia
Lipoma MC soft tissue tumor
Liposarcoma MC adult sarcoma
Embryonal rhabdomyosarcoma MC childhood sarcoma
Autoimmune disease loss of self-tolerance
Serum ANA greatest sensitivity for detecting SLE
SLE type III reaction; confirm with anti-dsDNA, anti-Sm
S/S malar rash, photophobia, joint pain, fibrinous pericarditis, nephritic GN
Drug-induced lupus procainamide, hydralazine; anti-histone antibodies
Antiphospholipid antibodies lupus anticoagulant, anti-cardiolipin antibodies; vessel thrombosis
PSS excess collagen; anti-topoisomerase antibodies
S/S dysphagia solids/liquids, Raynaud’s, interstitial lung disease, renal failure
CREST centromere antibody/calcinosis; Raynaud; esophageal dysmotility; sclerodactyly; telangiectasia
Dermatomyositis/polymyositis ↑ serum CK; risk of malignancy
Mixed connective tissue disease anti-ribonucleoprotein antibody
Antibody against acetylcholine receptor myasthenia gravis
Antibody against basement membrane Goodpasture’s syndrome
Antibody against endomysium and gliadin celiac disease
Antibody against insulin and islet cell type I diabetes
Antibody against intrinsic factor and parietal cell pernicious anemia
Antibody against microsome and thyroglobulin Hashimoto’s thyroiditis
Antibody against mitochondria primary biliary cirrhosis
Antibody against proteinase 3 of neutrophil (cANCA) Wegener’s granulomatosis
Antibody against myeloperoxidase of neutrophils (pANCA) microscopic polyangiitis
Antibody against TSH receptor Graves disease
Ichthyosis vulgaris ↑ thickness of stratum corneum; absent granular layer
Solar lentigo “liver spot” in elderly; increased melanocytes
Senile purpura trauma to fragile vessels on dorsum of hands; normal finding in elderly
Acute eczema weeping rash with vesicles
Chronic eczema dry, thickened, pruritic skin
Atopic dermatitis dry skin, eczema (type I reaction); children - face, intertriginous areas
Allergic contact dermatitis type IV hypersensitivity; poison ivy, nickel rash
Contact photodermatitis tetracycline; rash in sun exposed areas
Superficial dermatophytoses KOH preparation shows fungi located in stratum corneum
Tinea capitis Trichophyton tonsurans MCC (negative Wood’s lamp)
Tinea capitis child with dog Microsporum canis (positive Wood’s lamp)
Tinea versicolor hypopigmentation; Malassezia furfur; “spaghetti” (hyphae)/”meatball” KOH
Seborrheic dermatitis dandruff; Malassezia furfur
Molluscum contagiosum poxvirus; bowl-shaped with central depression filled with keratin
Rubeola Koplik’s spots; Warthin-Finkeldey giant cells
Rubella teratogenic; rash; postauricular adenopathy; arthritis in adults
Parvovirus “slapped face”; RBC aplasia, aplastic anemia (HbSS), spontaneous abortions, arthritis
Roseola HSV-6; high fever and then rash
Toxic shock syndrome toxin-producing S. aureus; tampon wearing; hypotension, desquamating rash
Scarlet fever group A streptococcus with erythrogenic toxin; strawberry tongue
Actinic (solar) keratosis precursor for squamous cell carcinoma; recur when scrapped off
Psoriasis elevated salmon-colored plaques covered by silver-colored scales; nail pitting
Pityriasis rosea herald . followed by rash in lines of cleavage
Varicella chickenpox; rash at different stages; Reye syndrome association
Herpes zoster vesicular rash following a sensory dermatome
HSV and Varicella-zoster virus remain latent in sensory ganglia
Impetigo group A streptococcus; honey crusted lesions on face
Pemphigus vulgaris autoimmune disease; IgG antibodies against intercellular attachment sites
Pemphigus vulgaris intraepidermal bullae; acantholytic cells; row of tombstones
Bullous pemphigoid autoimmune disease; IgG antibodies against basement membrane
Bullous pemphigoid subepidermal bullae
Pemphigus vulgaris/bullous pemphigoid type II hypersensitivity
Dermatitis herpetiformis autoimmune disease; IgA ICs; subepidermal bullae with neutrophils
Dermatitis herpetiformis association with celiac disease
Erythema multiforme vesicles and bullae; bullseye appearance
Risk factors drugs, M. pneumoniae infection
Stevens Johnson syndrome erythema multiforme involving mouth
Acne vulgaris androgen dependent (receptor on sebaceous glands)
Acne vulgaris Propionibacterium acnes lipases produce fatty acids causing inflammation
Acne rosacea pustular, erythematous lesion on face resembling malar rash
Urticaria type I and III reactions; type I due to mast cell release of histamine (drugs, fire ant bites)
Angioedema subcutaneous swelling
Causes ACE inhibitor (bradykinin); C1 esterase inhibitor deficiency (C2 and C4 decreased)
Sporotrichosis traumatic implantation of Sporothrix fungus into subcutaneous tissue
Causes rose gardener, lobster fisherman (sphagnum moss)
S/S chain of subcutaneous nodules
Tuberculoid leprosy intact cellular immunity (positive lepromin skin test); granulomas; no organisms
S/S autoamputation of digits; skin depigmentation and anesthesia
Lepromatous leprosy defective cellular immunity (negative lepromin skin test); no granulomas
S/S leonine face, erythema nodosum during treatment
Histology Grenz zone (zone free organisms) foamy macrophages with organisms
Rx dapsone
Erythema nodosum painful nodule on shins; subcutaneous fat inflammation
Associations coccidioidomycosis, TB, leprosy
Keratoacanthoma benign neoplasm; mimics squamous cancer; spontaneously resolves
UVB light cancers basal cell carcinoma, squamous cell carcinoma, malignant melanoma
Vitiligo autoimmune destruction melanocytes producing skin depigmentation
Seborrheic keratosis pigmented, wart-like lesion; “stuck on” appearance
Leser-Trelat sign multiple outcroppings seborrheic keratosis; consider stomach cancer
Acanthosis nigricans verrucoid pigmented lesion usually in axilla; associated with gastric cancer
Chloasma pregnancy mask due to increased melanocytes
Nevocellular nevus benign pigmented tumor modified melanocytes
Histology nevus cells proliferate along basal cell area, dermis, or both
Dysplastic nevus precursor for malignant melanoma
Malignant melanoma malignant tumor of melanocytes; most rapidly increasing cancer worldwide
ABCD for melanoma A, asymmetry; B, irregular border; C, color change; D, increased diameter
Risk factors severe sunburn at early age (MC), dysplastic nevi
Radial growth phase spreads laterally in epidermis/superficial dermis but does not result in metastasis
Vertical growth malignant cells penetrate into dermis; potential for metastasis
Lentigo malignant melanoma face of elderly
Superficial spreading melanoma lower extremities, back
Nodular melanoma aggressive tumor with no radial growth phase
Acral lentiginous melanoma palms, soles, under nails; may occur in blacks
Prognosis depends most on depth of invasion
Prevention sunscreen >15
Porphyria cutanea tarda photosensitive bullous disease; deficiency uroporphyrinogen decarboxylase
S/S hypertrichosis, fragile skin, port wine colored urine (uroporphyrins)
Black widow (Latrodectus) envenomation neurotoxin; abdominal muscle cramps
Brown recluse (Loxosceles) envenomation necrotoxin; skin ulcer
CSF choroid plexus in ventricles; enters subarachnoid space; removed by arachnoid granulations
CSF less protein and glucose than serum; scant number of cells; ↑ chloride
Xanthochromia yellow colored CSF due to bilirubin pigment; indicates subarachnoid hemorrhage
Papilledema of optic nerve sign of cerebral edema (intracranial hypertension)
Uncal herniation intracranial hypertension; medial portion temporal lobe through tentorium cerebelli
S/S midbrain hemorrhage; CN III palsy (pupil down/out); mydriasis
Mydriasis in uncal herniation compression of parasympathetic system
Cerebellar tonsils herniate into foramen magnum intracranial hypertension
Hydrocephalus ↑ CSF volume with distention of ventricles
Non-communicating blockage aqueduct Sylvius MCC newborn
Communicating choroid plexus papilloma; scarring of arachnoid granulations
Adults with hydrocephalus progressive dementia, wide-based gait, urinary incontinence; THINK
Open neural tube defects folate must be adequate before pregnancy; ↑ AFP
Spina bifida occulta dimple overlying skin L5-S1; vertebral arch not completely closed
Meningocele vertebral defect with meninges
Meningomyelocele vertebral defect with meninges and spinal cord
Arnold Chiari syndrome elongation medulla/cerebellar tonsils through foramen magnum
S/S hydrocephalus, syringomyelia, meningomyelocele
Dandy Walker syndrome hypoplasia of cerebellar vermis; hydrocephalus
Syringomyelia enlarged cervical cord; fluid filled cyst in cervical spinal cord
S/S loss pain/temperature upper extremities (spinothalamic); motor loss in hands (anterior horn cells)
Tuberous sclerosis AD; mental retardation; hamartomas CNS/kidney; shagreen .es skin
Tuberous sclerosis angiomyolipomas kidneys; rhabdomyoma of heart
Neurofibromatosis AD; pigmented neurofibromas; cafe au lait spots
Associations pheochromocytoma, brain tumors, acoustic neuromas
Meningitis nuchal rigidity
CSF findings viral meningitis ↑ CSF protein, normal CSF glucose, ↑ lymphocytes
CSF findings bacterial meningitis ↑ CSF protein, ↓ CSF glucose, ↑ neutrophils
Encephalitis inflammation of brain; mental status abnormalities; coma
Coxsackievirus MCC viral meningitis
HSV-1 hemorrhagic necrosis in temporal lobes
Rabies skunk and bat common vectors; Negri bodies in neurons; hydrophobia; flaccid paralysis
CMV intranuclear inclusions; periventricular calcification in congenital infection
Polio virus destruction of anterior horn cells; flaccid paralysis
Subacute sclerosing panencephalitis slow virus disease due to rubeola (measles virus)
Progressive multifocal leukoencephalopathy slow virus disease due to JC virus; common in AIDS
Creutzfeldt-Jakob disease prions; spongiform encephalopathy
Risk factors contact with human brain or contaminated beef (bovine disease)
Meningitis newborn Streptococcus agalactiae (group B) MCC; E. coli, 2nd MCC
Listeria monocytogenes newborn meningitis; gram + rods; pregnant mother should avoid soft cheeses
Neisseria meningitidis MCC meningitis 1 month - 18-yrs-old; petechia and DIC characteristic
Streptococcus pneumoniae MCC meningitis >18-yrs-old
Mycobacterium tuberculosis complication primary TB; base of brain meningitis with vasculitis
Neurosyphilis CSF with positive VDRL
Meningovascular syphilis vasculitis causing strokes
General paresis syphilis with dementia and brain atrophy
Tabes dorsalis posterior root ganglia/posterior column; ataxia; absent deep tendon reflexes; Argyll-Robertson pupil
Argyll-Robertson pupil pupil accommodates but does not react to direct light; THINK
Cryptococcus neoformans MC opportunistic CNS fungal disease; positive India ink
Mucor species frontal lobe abscess in diabetic ketoacidosis
Toxoplasma gondii MCC space occupying lesion in AIDS; avoid cat litter and raw meat in pregnancy
Congenital toxoplasmosis calcification basal ganglia; blindness; mental retardation
Naegleria and Acanthamoeba amoeba in fresh water; meningoencephalitis
Taenia solium pork tapeworm; adult with worms definitive host; adult with larva intermediate host
Cysticercosis larval form of T. solium; produces blindness and calcified cysts in CNS (seizures)
Coup injuries contusions at site of injury
Contrecoup injuries contusion on opposite side of injury; frontal and temporal lobes
Epidural hematoma temporoparietal skull fracture; tear middle meningeal artery
Subdural hematoma tear bridging veins; venous blood clot; fluctuating levels of consciousness
Hypoxic injury neurons more susceptible to damage than neuroglial cells
Laminar necrosis liquefactive necrosis at watershed areas in cortex
Atherosclerotic stroke pale infarction (liquefactive necrosis) extending to periphery of cerebral cortex
Causes atherosclerotic stroke thrombosis of middle cerebral artery or carotid artery
MCA stroke contralateral weakness/sensory loss; expressive aphasia if left hemisphere stroke
Amaurosis fugax loss vision described as curtain going down and then up
Cause embolus atherosclerotic plaque to branch of retinal artery (Hollenhorst plaque)
Vertebrobasilar stroke vertigo, ataxia, ipsilateral sensory loss face/contralateral hemiparesis/sensory
Embolic stroke hemorrhagic infarction extending to periphery cerebral cortex due to embolization
Intracerebral hemorrhage complication hypertension
Cause of intracerebral hemorrhage rupture of aneurysm of lenticulostriate vessels
Location of intracerebral hemorrhage basal ganglia MC site
Subarachnoid hemorrhage rupture of congenital berry aneurysm; severe occipital headache
Lacunar stroke microinfarctions; due to hyaline arteriolosclerosis (hypertension, diabetes)
Pure motor stroke posterior limb internal capsule
Pure sensory stroke thalamus
Multiple sclerosis autoimmune destruction myelin sheath/oligodendrocytes; plaques in white matter
S/S scanning speech, intention tremor, nystagmus, paresthesias, weakness
Bilateral internuclear ophthalmoplegia multiple sclerosis; demyelination MLF
CSF with oligoclonal bands sign of demyelination
Central pontine myelinolysis rapid intravenous correction of hyponatremia in alcoholic
Alzheimer’s disease MCC dementia Alzheimer’s disease
Alzheimer’s disease ↑ amyloid-ß destroys neurons; occipital lobe spared
Alzheimer’s disease ↑ density of neurofibrillary tangles and senile plaques
Down syndrome develop Alzheimer’s disease at early age; 3 functioning chromosome 21s
Apo E gene allele ε4 gene product has high affinity for amyloid-ß
Parkinson’s disease depigmentation substantia nigra neurons; Lewy bodies; ↓ dopamine
S/S extrapyramidal (muscle rigidity), resting tremor, festinating (shuffling) gait
Causes CO poisoning, Wilson’s, MPTP (meperidine derivative), drugs
Huntington’s disease AD; atrophy of the head of the caudate nucleus; trinucleotide repeat disorder (anticipation)
S/S movement disorder; dementia
Amyotrophic lateral sclerosis (ALS) degeneration of lower/upper motor neurons; no sensory changes
Werdnig Hoffman disease childhood type of ALS
Wilson’s disease AR; excess copper; cystic degeneration of putamen/globus pallidus
Vitamin B12 deficiency posterior column (↓ proprioception, vibration); lateral corticospinal tract (UMN)
Alcohol Wernicke-Korsakoff syndrome, cerebellar atrophy, central pontine myelinolysis
Wernicke encephalopathy thiamine deficiency; IV with glucose can prompt acute attack
Wernicke encephalopathy mammillary body hemorrhage (ring hemorrhages)
S/S confusion, ataxia, nystagmus, ophthalmoplegia
Korsakoff's psychosis limbic system; antegrade and retrograde memory deficits
Acute intermittent porphyria (AIP) AD; deficiency uroporphyrinogen synthase; ↑ porphobilinogen
S/S drug induced (alcohol, barbiturates); abdominal pain (“bellyful of scars&rdquo; dementia
Window sill test urine in AIP colorless; turns port wine color with exposure to light (porphobilin)
Rx heme infusions (inhibits δ-aminolevulinic acid synthetase)
Adult brain tumors 70% supratentorial; frontal lobe MC site
Childhood brain tumors 70% infratentorial; cerebellum MC site
Adult brain tumors (descending order) GBM, meningioma, acoustic neuroma
GBM high grade astrocytoma; hemorrhage and necrosis; may cross corpus callosum
Meningioma female dominant; arise from arachnoid granulations; psammoma bodies; seizures
Acoustic neuroma schwannoma of the VIIIth nerve; tinnitus; sensorineural hearing loss; neurofibromatosis
Childhood brain tumors astrocytoma cerebellum (MC), medulloblastoma
Astrocytoma MC primary brain tumor; frontal lobe MC site in adult; cerebellum MC site in child
Medulloblastoma malignant tumor cerebellum; invades fourth ventricle
Ependymoma arises in 4th ventricle in children and cauda equina in adults
Oligodendroglioma frontal lobe tumor with dystrophic calcification
CNS lymphomas metastasis MCC; primary CNS lymphoma associated with EBV in AIDS
Metastasis MC brain malignancy; lung cancer MC site of origin; junction gray and white matter
Schwannoma benign tumor Schwann cell; MC peripheral nerve tumor; alternating dark and light areas
AIDS dementia due to HIV; multinucleated microglial cells
CMV retinitis MCC of blindness in AIDS; Rx. ganciclovir (foscarnet if unsuccessful)
Peripheral neuropathy myelin destruction (sensory; paresthesias); axon destruction (muscle atrophy)
Peripheral neuropathy DM MCC; thiamine/pyridoxine deficiency; vinca alkaloids (vincristine)
Guillain-Barre syndrome MCC autoimmune demyelination of peripheral and spinal nerves
Risk factors M. pneumoniae, influenza vaccine, Campylobacter jejuni
S/S ascending paralysis; CSF increased protein, lymphocytes; Rx. plasmapheresis
Charcot-Marie-Tooth AD; common peroneal nerve palsy; inverted bottle appearance
Idiopathic Bell’s palsy facial muscle paralysis due to inflammation of cranial nerve VII
Lyme disease facial nerve MC cranial nerve involved; bilateral Bell’s palsy
Bacterial conjunctivitis Staphylococcus aureus
Viral conjunctivitis adenovirus MC; HSV-1 (dendritic ulcers)
Sudden loss of vision amaurosis fugax, central retinal artery or vein occlusion
Uveitis inflammation of iris, choroid, ciliary body; blurry vision; ankylosing spondylitis, sarcoidosis
Optic neuritis multiple sclerosis MCC; methyl alcohol poisoning
Glaucoma increased intraocular pressure; fluid cannot exit canal of Schlemm; causes optic atrophy
Optic atrophy blindness; pale disc; glaucoma, optic neuritis
Macular degeneration MCC permanent visual loss in elderly
Meniere’s disease increased endolymph; tinnitus, vertigo, sensorineural hearing loss
Presbycusis MCC sensorineural hearing loss in elderly
Otosclerosis MCC conductive hearing loss in elderly; fusion of ear ossicles
Impacted wax in outer ear canal conduction hearing loss
Weber test lateralizes to left ear, bone>air conduction (Rinne test) conduction loss left ear
Weber test lateralizes to left ear, air>bone conduction both ears sensorineural hearing loss right ear
Otitis media MCC conduction hearing loss in children; S. pneumoniae MCC
Malignant external otitis in diabetic Pseudomonas aeruginosa



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